المؤلفون: Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William, Wierenga, Klaas, Klee, Eric, Ambrose, J, Arumugam, P, Baple, E, Bleda, M, Boardman-Pretty, F, Boissiere, J, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Craig, C, Daugherty, L, de Burca, A, Devereau, A, Elgar, G, Foulger, R, Fowler, T, Furió-Tarí, P, Hackett, J, Halai, D, Hamblin, A, Henderson, S, Holman, J, Hubbard, T, Ibáñez, K, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Mason, J, Mcdonagh, E, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, Odhams, C, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smedley, D, Smith, K, Sosinsky, A, Spooner, W, Stevens, H, Stuckey, A, Sultana, R, Thomas, E, Thompson, S, Tregidgo, C, Tucci, A, Walsh, E, Watters, S, Welland, M, Williams, E, Witkowska, K, Wood, S, Zarowiecki, M, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Dpt génétique médicale CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice), Institut Universitaire de Recherche Clinique (IURC Montpellier), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), CIC CHU Lyon (inserm), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), GIN Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), CHU Montpellier = Montpellier University Hospital, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04615151
https://hal.science/hal-04615151v1/document
https://hal.science/hal-04615151v1/file/2024%20Benkirane%20et%20al.,%20De%20novo%20and%20inherited.pdf
https://doi.org/10.1093/brain/awae193

المؤلفون: Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T.

المساهمون: National Human Genome Research Institute, NIHR

المصدر: Genetics in Medicine ; volume 26, issue 4, page 101073 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101073
https://api.elsevier.com/content/article/PII:S1098360024000066?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000066?httpAccept=text/plain

المؤلفون: Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, Di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S, Ambrose J. C., Arumugam P., Bevers R., Bleda M., Boardman-Pretty F., Boustred C. R., Brittain H., Brown M. A., Caulfield M. J., Chan G. C., Giess A., Griffin J. N., Hamblin A., Henderson S., Hubbard T. J. P., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Kousathanas A., Lahnstein L., Lakey A., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., McEntagart M., Minneci F., Mitchell J., Moutsianas L., Mueller M., Murugaesu N., Need A. C., O’Donovan P., Odhams C. A., Patch C., Perez-Gil D., Pereira M. B., Pullinger J., Rahim T., Rendon A., Rogers T., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smith S. C., Sosinsky A., Stuckey A., Tanguy M., Taylor Tavares A. L., Thomas E. R. A., Thompson S. R., Tucci A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., French Deborah L., Heller Elizabeth A., Saade Murielle, Song Hongjun, Ming Guo-li, Alkuraya Fowzan S., Agrawal Pankaj B., Reinberg Danny, Bhoj Elizabeth J., Martínez-Balbás Marian A., Akizu Naiara

المساهمون: Gracia-Diaz, C, Zhou, Y, Yang, Q, Maroofian, R, Espana-Bonilla, P, Lee, Ch, Zhang, S, Padilla, N, Fueyo, R, Waxman, Ea, Lei, S, Otrimski, G, Li, D, Sheppard, Se, Mark, P, Harr, Mh, Hakonarson, H, Rodan, L, Jackson, A, Vasudevan, P, Powel, C, Mohammed, S, Maddirevula, S, Alzaidan, H, Faqeih, Ea, Efthymiou, S, Turchetti, V, Rahman, F, Maqbool, S, Salpietro, V, Ibrahim, Sh, Di Rosa, G, Houlden, H, Alharbi, Mn, Al-Sannaa, Na, Bauer, P, Zifarelli, G, Estaras, C, Hurst, Ace, Thompson, Ml, Chassevent, A, Smith-Hicks, Cl, de la Cruz, X, Holtz, Am, Elloumi, Hz, Hajianpour, Mj, Rieubland, C, Braun, D, Banka, S, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O’Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M.

مصطلحات موضوعية: HISTONE METHYLTRANSFERASE, READ ALIGNMENT, MOUSE MODEL, LYSINE 27, MUTATIONS, GENES, PRC2, METHYLATION, OVERGROWTH, INHIBITION

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37433783; info:eu-repo/semantics/altIdentifier/wos/WOS:001037937100025; volume:14; issue:1 - art. numb. 4109; firstpage:1; lastpage:18; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11570/3270568

الاتاحة: https://hdl.handle.net/11570/3270568
https://doi.org/10.1038/s41467-023-39645-5
https://www.nature.com/articles/s41467-023-39645-5.pdf

المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Alexander, Elizabeth, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han

مصطلحات موضوعية: Autosomal recessive ectodermal dysplasia type 14, Closca, Conical teeth, Ectodermal dysplasia, Enamel knot, Extracellular matrix dependant signalling, Hypodontia, TSPEAR, WNT10A, zebrafish fin regeneration

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37009414; info:eu-repo/semantics/altIdentifier/wos/WOS:000961108100001; volume:4; issue:2; firstpage:100186-1; lastpage:100186-19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11392/2543394; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150337683; https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

الاتاحة: https://hdl.handle.net/11392/2543394
https://doi.org/10.1016/j.xhgg.2023.100186
https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

المؤلفون: Boardman-Pretty, F. A.

Thesis Advisors: Humphries, S. E. ; Smith, A. J. P.

مصطلحات موضوعية: 616.1

الاتاحة: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.763146

المؤلفون: Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Pochiero F, Mari F, Ramesh V, Capra V, Mancardi M, Keren B, Mignot C, Lulli M, Parks K, Griffin H, Brugger M, Nigro V, Hirata Y, Koichihara R, Peterlin B, Maki R, Nitta Y, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M, Torella A, Tohyama J, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R

المصدر: American Journal of Human Genetics, 3 August 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293028; https://eprints.ncl.ac.uk/fulltext.aspx?url=293028/72092B1E-63AA-46F3-8128-4AA7055D67D9.pdf&pub_id=293028

الاتاحة: https://eprints.ncl.ac.uk/293028

المؤلفون: Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C, Haider, Z, Ryan, G, Holden, S, Harrison, M, Burrows, N, Jones, WD, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Brown, MA, Caulfield, MJ, Chan, GC, Giess, A, Griffin, JN, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O‘Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Riess, O, Haack, TB, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, JM, Schüle, R, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N

المصدر: Human Genetics and Genomics Advances , 4 (2) , Article 100186. (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, zebrafish fin regeneration, Extracellular matrix dependant signalling, Closca, Autosomal recessive ectodermal dysplasia type 14

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10174155/1/1-s2.0-S2666247723000180-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10174155/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10174155/1/1-s2.0-S2666247723000180-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10174155/

المؤلفون: Spielmann, Nadine, Miller, Gregor, Oprea, Tudor I., Hsu, Chih-Wei, Fobo, Gisela, Frishman, Goar, Montrone, Corinna, Haseli Mashhadi, Hamed, Mason, Jeremy, Munoz Fuentes, Violeta, Leuchtenberger, Stefanie, Ruepp, Andreas, Wagner, Matias, Westphal, Dominik S., Wolf, Cordula, Görlach, Agnes, Sanz-Moreno, Adrián, Cho, Yi-Li, Teperino, Raffaele, Brandmaier, Stefan, Sharma, Sapna, Galter, Isabella Rikarda, Östereicher, Manuela A., Zapf, Lilly, Mayer-Kuckuk, Philipp, Rozman, Jan, Teboul, Lydia, Bunton-Stasyshyn, Rosie K. A., Cater, Heather, Stewart, Michelle, Christou, Skevoulla, Westerberg, Henrik, Willett, Amelia M., Wotton, Janine M., Roper, Willson B., Christiansen, Audrey E., Ward, Christopher S., Heaney, Jason D., Reynolds, Corey L., Prochazka, Jan, Bower, Lynette, Clary, David, Selloum, Mohammed, Bou About, Ghina, Wendling, Olivia, Jacobs, Hugues, Leblanc, Sophie, Meziane, Hamid, Sorg, Tania, Audain, Enrique, Gilly, Arthur, Rayner, Nigel W., Aguilar-Pimentel, Juan A., Becker, Lore, Garrett, Lillian, Hölter, Sabine M., Amarie, Oana V., Calzada-Wack, Julia, Klein-Rodewald, Tanja, da Silva-Buttkus, Patricia, Lengger, Christoph, Stoeger, Claudia, Gerlini, Raffaele, Rathkolb, Birgit, Mayr, Daniela, Seavitt, John, Gaspero, Angelina, Green, Jennie R., Garza, Arturo, Bohat, Ritu, Wong, Leeyean, McElwee, Melissa L., Kalaga, Sowmya, Rasmussen, Tara L., Lorenzo, Isabel, Lanza, Denise G., Samaco, Rodney C., Veeraragaven, Surabi, Gallegos, Juan J., Kašpárek, Petr, Petrezsélyová, Silvia, King, Ruairidh, Johnson, Sara, Cleak, James, Szkoe-Kovacs, Zsombor, Codner, Gemma, Mackenzie, Matthew, Caulder, Adam, Kenyon, Janet, Gardiner, Wendy, Phelps, Hayley, Hancock, Rhys, Norris, Claire, Moore, Michayla A., Seluke, Audrie M., Urban, Rachel, Kane, Coleen, Goodwin, Leslie O., Peterson, Kevin A., Mckay, Matthew, Cook, Jenn J., Lowy, Jacob P., McFarland, Michael, Wood, Joshua A., Willis, Brandon J., Tolentino, Heather, Tolentino, Todd, Schuchbauer, Michael, Salazar, Jason, Johnson, Jennifer, Munson, Rebecca, Ayadi, Abdel, Pavlovic, Guillaume, Birling, Marie-Christine, Jacquot, Sylvie, Ali-Hadji, Dalila, Charles, Philippe, Andre, Philippe, Champy, Marie-France, Riet, Fabrice, Vukobradovic, Igor, Berberovic, Zorana, Qu, Dawei, Guo, Ruolin, D’Souza, Abigail, Huang, Ziyue, Camilleri, Susan, Ganguly, Milan, Adissu, Hibret, Eskandarian, Mohammed, Shang, Xueyuan, Duffin, Kyle, Xu, Catherine, Roberton, Kyle, Laurin, Valerie, Lan, Qing, Sleep, Gillian, Creighton, Amie, Lintott, Lauri, Gertsenstein, Marina, Pereira, Monica, Tondat, Sandra, Patel, Amit, Cruz, Maribelle, Bezginov, Alex, Miller, David, Hy, Wang, Yoshiki, Atsushi, Tanaka, Nobuhiko, Tamura, Masaru, Liu, Zhiwei, Ermakova, Olga, Ferrara, Anna, Fruscoloni, Paolo, Seisenberger, Claudia, Bürger, Antje, Giesert, Florian, Ambrose, J.C., Arumu, gam P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O'Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor-Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Hitz, Marc-Phillip, Zeggini, Eleftheria, Wolf, Eckhard, Sedlacek, Radislav, Murray, Steven A., Svenson, Karen L., Braun, Robert E., White, Jaqueline K., Kelsey, Lois, Gao, Xiang, Shiroishi, Toshihiko, Xu, Ying, Seong, Je Kyung, Mammano, Fabio, Tocchini-Valentini, Glauco P., Beaudet, Arthur L., Meehan, Terrence F., Parkinson, Helen, Smedley, Damian, Mallon, Ann-Marie, Wells, Sara E., Grallert, Harald, Wurst, Wolfgang, Marschall, Susan, Fuchs, Helmut, Brown, Steve D. M., Flenniken, Ann M., Nutter, Lauryl M. J., McKerlie, Colin, Herault, Yann, Lloyd, K. C. Kent, Dickinson, Mary E., Gailus-Durner, Valerie, Hrabe de Angelis, Martin

المساهمون: Seong, Je Kyung

مصطلحات موضوعية: DILATED CARDIOMYOPATHY, MOUSE, MUTATIONS, CONSORTIUM, EXPRESSION, DISCOVERY, PROMOTER, INTERVAL, CREATINE, DEFECTS

Relation: Nature Cardiovascular Research, Vol.1 No.2, pp.157-173; https://hdl.handle.net/10371/205511; 000886947000046; 2-s2.0-85141500188; 193279

الاتاحة: https://hdl.handle.net/10371/205511
https://doi.org/10.1038/s44161-022-00018-8

المؤلفون: Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Genomics England Research Consortium, Black, Graeme C, Ellingford, Jamie M, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O‘Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M

مصطلحات موضوعية: Diagnostics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/8/810; http://dx.doi.org/10.1136/jmg-2022-108618

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/8/810
https://doi.org/10.1136/jmg-2022-108618

المؤلفون: Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, The Genomics England Research Consortium, Wakeling, Emma L, Wilkie, Andrew O M, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O‘Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/7/712; http://dx.doi.org/10.1136/jmg-2022-108946

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/7/712
https://doi.org/10.1136/jmg-2022-108946

المؤلفون: Moore, A Rachel, Yu, Jing, Pei, Yang, Cheng, Emily W Y, Taylor Tavares, Ana Lisa, Walker, Woolf T, Thomas, N Simon, Kamath, Arveen, Ibitoye, Rita, Josifova, Dragana, Wilsdon, Anna, Ross, Alison, Calder, Alistair D, Offiah, Amaka C, Wilkie, Andrew O M, Genomics England Research Consortium, Taylor, Jenny C, Pagnamenta, Alistair T, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O‘Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M

مصطلحات موضوعية: Diagnostics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/12/1235; http://dx.doi.org/10.1136/jmg-2023-109362

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/12/1235
https://doi.org/10.1136/jmg-2023-109362

المؤلفون: Akinrinade, Oyediran, Lesurf, Robert, Ambrose, J. C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E. R. A., Thompson, S. R., Tucci, A.

المساهمون: Canadian Institutes of Health Research, Heart and Stroke Foundation of Canada, National Institute for Health and Care Research, Wellcome Trust

المصدر: Journal of Cardiovascular Translational Research ; volume 16, issue 6, page 1287-1302 ; ISSN 1937-5387 1937-5395

الاتاحة: http://dx.doi.org/10.1007/s12265-023-10411-8
https://link.springer.com/content/pdf/10.1007/s12265-023-10411-8.pdf
https://link.springer.com/article/10.1007/s12265-023-10411-8/fulltext.html

المؤلفون: Hayward, S, Norton, J, Bownass, L, Platt, C, Ambrose, J. C., Arumugam, P, Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A, Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A.

المساهمون: Medical Research Council

المصدر: BMC Nephrology ; volume 24, issue 1 ; ISSN 1471-2369

الاتاحة: http://dx.doi.org/10.1186/s12882-023-03292-1
https://link.springer.com/content/pdf/10.1186/s12882-023-03292-1.pdf
https://link.springer.com/article/10.1186/s12882-023-03292-1/fulltext.html

المؤلفون: Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian M., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Leong, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O’Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Perez-Gil, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A.

المساهمون: Academy of Finland, Sigrid Juséliuksen Säätiö, Syöpäsäätiö, Paulon Säätiö, Norges Forskningsråd, European Molecular Biology Laboratory (EMBL) Hamburg

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/s13073-023-01204-4
https://link.springer.com/content/pdf/10.1186/s13073-023-01204-4.pdf
https://link.springer.com/article/10.1186/s13073-023-01204-4/fulltext.html

المؤلفون: Leggatt, Gary, Cheng, Guo, Narain, Sumit, Briseño-Roa, Luis, Annereau, Jean-Philippe, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H.

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-023-32169-4
https://www.nature.com/articles/s41598-023-32169-4.pdf
https://www.nature.com/articles/s41598-023-32169-4

المؤلفون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Gustavsson, E, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J

المساهمون: Medical Research Council, Fondazione Cariplo, Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica, National Ministry of Health, Italian Ministry for Universities and Research, Medical Research Future Fund Genomics Health Futures Mission, NIH Intramural Research Program, US National Institute on Aging, Telethon Foundation, Rotary Club Milano Ovest

المصدر: Brain ; volume 146, issue 12, page 5060-5069 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad240
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad240/52543385/awad240.pdf
https://academic.oup.com/brain/article-pdf/146/12/5060/53962945/awad240.pdf

المؤلفون: Lam, Tanya, Rocca, Clarissa, Ibanez, Kristina, Dalmia, Anupriya, Tallman, Samuel, Hadjivassiliou, Marios, Hensiek, Anke, Nemeth, Andrea, Facchini, Stefano, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O’Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A

المساهمون: Medical Research Council, Barts Charity

المصدر: Brain Communications ; volume 5, issue 5 ; ISSN 2632-1297

الاتاحة: http://dx.doi.org/10.1093/braincomms/fcad244
https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcad244/51553509/fcad244.pdf
https://academic.oup.com/braincomms/article-pdf/5/5/fcad244/51916404/fcad244.pdf

المؤلفون: Niggl, Eva, Bouman, Arjan, Briere, Lauren C., Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Sweetser, David A., Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, van Esbroeck, Annelot C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N.

المساهمون: Medical Research Council, National Institute for Health and Care Research, Wellcome Trust, Heart of England NHS Foundation Trust, Cancer Research UK

المصدر: The American Journal of Human Genetics ; volume 110, issue 8, page 1414-1435 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.07.005
https://api.elsevier.com/content/article/PII:S0002929723002446?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723002446?httpAccept=text/plain

المؤلفون: Tooze, RS, Hyder, Z, Calpena, E, Pei, Y, Twigg, SRF, Cilliers, D, Morton, JEV, McCann, E, Weber, A, Wilson, LC, Need, A, Bond, A, Tavares, ALT, Brittain, H, Thomas, E, Hill, SL, Deans, ZC, Boardman-Pretty, F, Caulfield, M, Scott, RH, Wilkie, AOM

Relation: https://ora.ox.ac.uk/objects/uuid:4014d09d-f883-4936-9880-1f9e847f1059; https://doi.org/10.1038/s41431-021-01025-2

الاتاحة: https://doi.org/10.1038/s41431-021-01025-2
https://ora.ox.ac.uk/objects/uuid:4014d09d-f883-4936-9880-1f9e847f1059

المؤلفون: Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C.L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J.P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E.A., Leong, I. U.S., Lopez, F. J., Mitchell, J., Pereira, M. B., Smith, S. C., Thomas, E. R.A., Thompson, S. R., Jansen, Gert, Arno, Gavin, Leroux, M. R.

المصدر: Chrystal , P W , Lambacher , N J , Genomics England Research Consortium , Doucette , L P , Bellingham , J , Schiff , E R , Noel , N C L , Li , C , Tsiropoulou , S , Casey , G A , Zhai , Y , Nadolski , N J , Majumder , M H , Tagoe , J , D’Esposito , F , Cordeiro , M F , Downes , S , Clayton-Smith , J , Ellingford , J , Ambrose , J C , Arumugam , P , Bevers , R ....

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/7d88acaf-b7cd-4795-bd09-ef3b43de8b58

الاتاحة: https://pure.eur.nl/en/publications/7d88acaf-b7cd-4795-bd09-ef3b43de8b58
https://doi.org/10.1038/s41467-022-33820-w
https://pure.eur.nl/ws/files/72517711/The_inner_junction_protein_CFAP20_functions_in_motile_and_non_motile_cilia_and_is_critical_for_vision.pdf
http://www.scopus.com/inward/record.url?scp=85141179000&partnerID=8YFLogxK