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: Mao, K., Borel, C., Ansar, M., Jolly, A., Makrythanasis, P., Froehlich, C., Iwaszkiewicz, J., Wang, B., Xu, X., Li, Q., Blanc, X., Zhu, H., Chen, Q., Jin, F., Ankamreddy, H., Singh, S., Zhang, H., Wang, X., Chen, P., Ranza, E., Paracha, S.A., Shah, S.F., Guida, V., Piceci-Sparascio, F., Melis, D., Dallapiccola, B., Digilio, M.C., Novelli, A., Magliozzi, M., Fadda, M.T., Streff, H., Machol, K., Lewis, R.A., Zoete, V., Squeo, G.M., Prontera, P., Mancano, G., Gori, G., Mariani, M., Selicorni, A., Psoni, S., Fryssira, H., Douzgou, S., Marlin, S., Biskup, S., De Luca, A., Merla, G., Zhao, S., Cox, T.C., Groves, A.K., Lupski, J.R., Zhang, Q., Zhang, Y.B., Antonarakis, S.E.

المصدر: Nature communications, vol. 14, no. 1, pp. 2026

مصطلحات موضوعية: Animals, Mice, Goldenhar Syndrome/pathology, Facial Asymmetry, Pedigree, Forkhead Transcription Factors

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37041148; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0699EC8ECF822; https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82; https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82
https://doi.org/10.1038/s41467-023-37703-6
https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822

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 Stülpnagel, C, Smedley, D, TMEM63B collaborators, Genomics England Research Consortium, Torella, A, Tohyama, J, Koichihara, R, 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

مصطلحات موضوعية: abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Brain, Intellectual Disability, Phenotype

وصف الملف: 1356 - 1376

Relation: Am J Hum Genet; TY - JOUR T1 - Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration AU - Vetro, Annalisa AU - Pelorosso, Cristiana AU - Balestrini, Simona AU - Masi, Alessio AU - Hambleton, Sophie AU - Argilli, Emanuela AU - Conti, Valerio AU - Giubbolini, Simone AU - Barrick, Rebekah AU - Bergant, Gaber AU - Writzl, Karin AU - Bijlsma, Emilia K. AU - Brunet, Theresa AU - Cacheiro, Pilar AU - Mei, Davide AU - Devlin, Anita AU - Hoffer, Mariëtte J.V. AU - Machol, Keren AU - Mannaioni, Guido AU - Sakamoto, Masamune AU - Menezes, Manoj P. AU - Courtin, Thomas AU - Sherr, Elliott AU - Parra, Riccardo AU - Richardson, Ruth AU - Roscioli, Tony AU - Scala, Marcello AU - von Stülpnagel, Celina AU - Smedley, Damian AU - Pochiero, Francesca AU - Mari, Francesco AU - Ramesh, Venkateswaran AU - Capra, Valeria AU - Mancardi, Margherita AU - Keren, Boris AU - Mignot, Cyiril AU - Lulli, Matteo AU - Parks, Kendall AU - Griffin, Helen AU - Brugger, Melanie AU - Nigro, Vincenzo AU - Hirata, Yuko AU - Koichihara, Reiko AU - Peterlin, Borut AU - Hirata, Yuko AU - Maki, Ryuto AU - Nitta, Yohei AU - Ambrose, John C. AU - Arumugam, Prabhu AU - Bevers, Roel AU - Bleda, Marta AU - Boardman-Pretty, Freya AU - Boustred, Christopher R. AU - Brittain, Helen AU - Brown, Matthew A. AU - Caulfield, Mark J. AU - Chan, Georgia C. AU - Giess, Adam AU - Griffin, John N. AU - Hamblin, Angela AU - Henderson, Shirley AU - Hubbard, Tim J.P. AU - Jackson, Rob AU - Jones, Louise J. AU - Kasperaviciute, Dalia AU - Kayikci, Melis AU - Kousathanas, Athanasios AU - Lahnstein, Lea AU - Lakey, Anna AU - Leigh, Sarah E.A. AU - Leong, Ivonne U.S. AU - Lopez, Javier F. AU - Maleady-Crowe, Fiona AU - McEntagart, Meriel AU - Minneci, Federico AU - Mitchell, Jonathan AU - Moutsianas, Loukas AU - Mueller, Michael AU - Murugaesu, Nirupa AU - Need, Anna C. AU - O’Donovan, Peter AU - Odhams, Chris A. AU - Patch, Christine AU - Perez-Gil, Daniel AU - Pereira, Marina B. AU - Pullinger, John AU - Rahim, Tahrima AU - Rendon, Augusto AU - Rogers, Tim AU - Savage, Kevin AU - Sawant, Kushmita AU - Scott, Richard H. AU - Siddiq, Afshan AU - Sieghart, Alexander AU - Smith, Samuel C. AU - Sosinsky, Alona AU - Stuckey, Alexander AU - Tanguy, Mélanie AU - Taylor Tavares, Ana Lisa AU - Thomas, Ellen R.A. AU - Thompson, Simon R. AU - Tucci, Arianna AU - Welland, Matthew J. AU - Williams, Eleanor AU - Witkowska, Katarzyna AU - Wood, Suzanne M. AU - Zarowiecki, Magdalena AU - Torella, Annalaura AU - Tohyama, Jun AU - Koichihara, Reiko AU - Hamada, Keisuke AU - Ogata, Kazuhiro AU - Suzuki, Takashi AU - Sugie, Atsushi AU - van der Smagt, Jasper J. AU - van Gassen, Koen AU - Valence, Stephanie AU - Vittery, Emma AU - Malone, Stephen AU - Kato, Mitsuhiro AU - Matsumoto, Naomichi AU - Ratto, Gian Michele AU - Guerrini, Renzo Y1 - 2023/08/03 PY - 2023 N1 - doi:10.1016/j.ajhg.2023.06.008 DO - 10.1016/j.ajhg.2023.06.008 T2 - The American Journal of Human Genetics JF - The American Journal of Human Genetics SP - 1356 EP - 1376 VL - 110 IS - 8 PB - Elsevier SN - 0002-9297 M3 - doi:10.1016/j.ajhg.2023.06.008 UR - https://doi.org/10.1016/j.ajhg.2023.06.008 Y2 - 2024/07/15 ER -; https://qmro.qmul.ac.uk/xmlui/handle/123456789/98118

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/98118
https://doi.org/10.1016/j.ajhg.2023.06.008

المؤلفون: Gofin Y., Mackay L. P., Machol K., Keswani S., Potocki L., Di Gregorio E., Naretto V. G., Brusco A., Hernandez-Garcia A., Scott D. A.

المساهمون: Gofin Y., Mackay L.P., Machol K., Keswani S., Potocki L., Di Gregorio E., Naretto V.G., Brusco A., Hernandez-Garcia A., Scott D.A.

مصطلحات موضوعية: 4p16.3, congenital diaphragmatic hernia, critical region, FGFRL1, Wolf-Hirschhorn syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/33443296; info:eu-repo/semantics/altIdentifier/wos/WOS:000607413500001; volume:185; issue:3; firstpage:836; lastpage:840; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2318/1789644; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099377752; https://pubmed.ncbi.nlm.nih.gov/33443296/

الاتاحة: http://hdl.handle.net/2318/1789644
https://doi.org/10.1002/ajmg.a.62066
https://pubmed.ncbi.nlm.nih.gov/33443296/

المؤلفون: Zayek, A, Holmes, A, Moshe, Y Ben, Varghese, N, Keswani, S, Machol, K, Fernandes, C

المصدر: The American Journal of the Medical Sciences ; volume 367, page S20 ; ISSN 0002-9629

الاتاحة: http://dx.doi.org/10.1016/s0002-9629(24)00087-9
https://api.elsevier.com/content/article/PII:S0002962924000879?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002962924000879?httpAccept=text/plain

المؤلفون: Yan, K. (Kezhi), Rousseau, J. (Justine), Machol, K. (Keren), Cross, L.A. (Laura A.), Agre, K.E. (Katherine E.), Gibson, C.F. (Cynthia Forster), Goverde, A. (Anne), Engleman, K.L. (Kendra L.), Verdin, H. (Hanna), De Baere, E. (Elfride), Potocki, L. (Lorraine), Zhou, D. (Dihong), Cadieux-Dion, M. (Maxime), Bellus, G.A. (Gary A.), Wagner, M.D. (Monisa D.), Hale, R.J. (Rebecca J.), Esber, N. (Natacha), Riley, A.F. (Alan F.), Solomon, B.D. (Benjamin D.), Cho, M.T. (Megan T.), McWalter, K. (Kirsty), Eyal, R. (Roy), Hainlen, M.K. (Meagan K.), Mendelsohn, B.A. (Bryce A.), Porter, H.M. (Hillary M.), Lanpher, B.C. (Brendan C.), Lewis, A.M. (Andrea M.), Savatt, J. (Juliann), Thiffault, I. (Isabelle), Callewaert, L., Campeau, P.M. (Philippe M), Yang, X.-J. (Xiang-Jiao)

المصدر: Science advances vol. 6 no. 4

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/124458; urn:hdl:1765/124458

الاتاحة: http://repub.eur.nl/pub/124458
https://doi.org/10.1126/sciadv.aax0021

المؤلفون: Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., Gavrilova, R.H., Jr, J.M.G., Haack, T.B., Juusola, J., Kant, S.G., Kayani, S., Keren, B., Ketteler, P., Klockner, C., Koopmann, T.T., Kruisselbrink, T.M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R.R., Leduc, M.S., Leonardi, E., Lewis, A.M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C.K., Sacoto, M.J.G., Scaglia, F., Shinawi, M., Spranger, S., Tan, E.S., Taylor, J., Trentesaux, A.S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M.T., Mathie, A., Klee, E.W.

المصدر: Genome Medicine

مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling

وصف الملف: application/pdf

Relation: lumc-id: 176351458; https://hdl.handle.net/1887/3563777

الاتاحة: https://hdl.handle.net/1887/3563777
https://doi.org/10.1186/s13073-022-01064-4

المؤلفون: Zawerton, A. (Ash), Mignot, C. (Cyril), Sigafoos, A. (Ashley), Blackburn, Patrick R., Haseeb, A. (Abdul), McWalter, K. (Kirsty), Ichikawa, S. (Shoji), Nava, C. (Caroline), Keren, B. (Boris), Charles, P. (Perrine), Marey, I. (Isabelle), Tabet, A. (Anne-Claude), Levy, J. (Jonathan), Perrin, L. (Laurence), Hartmann, A. (Andreas), Lesca, G. (Gaetan), Schluth-Bolard, C. (Caroline), Monin, P. (Pauline), Dupuis-Girod, S. (Sophie), Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Z. (Zehua), Poisson, A. (Alice), El Chehadeh, S. (Salima), Alembik, Y. (Yves), Bruel, A. (Ange-Line), Lehalle, D. (Daphné), Nambot, S. (Sophie), Moutton, S. (Sébastien), Odent, S. (Sylvie), Jaillard, S. (Sylvie), Dubourg, C. (Christèle), Hilhorst-Hofstee, Y. (Yvonne), Barbaro-Dieber, T. (Tina), Ortega, L. (Lucia), Bhoj, Elizabeth J., Masser-Frye, D. (Diane), Bird, Lynne M., Lindstrom, K. (Kristin), Ramsey, Keri M., Narayanan, V. (Vinodh), Fassi, E. (Emily), Willing, M. (Marcia), Cole, T. (Trevor), Salter, Claire G., Akilapa, R. (Rhoda), Vandersteen, A. (Anthony), Canham, N. (Natalie), Rump, P. (Patrick), Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, E. (Emilia), Hoffer, M. (Mariëtte), Vargas, M. (Marcelo), Wojcik, A. (Antonina), Cherik, F. (Florian), Francannet, C. (Christine), Rosenfeld, Jill A., Machol, K. (Keren), Scott, Daryl A., Bacino, Carlos A., Wang, X. (Xia), Clark, Gary D., Bertoli, M. (Marta), Zwolinski, S. (Simon), Thomas, Rhys H., Akay, E. (Ela), Chang, Richard C., Bressi, R. (Rebekah), Sanchez Russo, R. (Rossana), Srour, M. (Myriam), Russell, L. (Laura), Goyette, Anne-Marie E., Dupuis, L. (Lucie), Mendoza-Londono, R. (Roberto), Karimov, C. (Catherine), Joseph, M. (Maries), Nizon, M. (Mathilde), Cogné, B. (Benjamin), Kuechler, A. (Alma), Piton, A. (Amélie), Klee, Eric W., Lefebvre, V. (Véronique), Clark, Karl J., Depienne, C. (Christel)

مصطلحات موضوعية: Aucun

الاتاحة: https://linkinghub.elsevier.com/retrieve/pii/S1098360021012363

المؤلفون: Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C., Deciphering Dev Disorder Study

المصدر: Genetics in Medicine

مصطلحات موضوعية: autism, developmental delay, intellectual disability, epilepsy, missense variants

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub; lumc-id: 112023180; https://hdl.handle.net/1887/3184942

الاتاحة: https://hdl.handle.net/1887/3184942
https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub
https://doi.org/10.1038/s41436-019-0657-0

المؤلفون: Yan, KZ, Rousseau, J, Machol, K, Cross, LA, Agre, KE, Gibson, CF, Goverde, Anne, Engleman, KL, Verdin, H, De Baere, E, Potocki, L, Zhou, DH, Cadieux-Dion, M, Bellus, GA, Wagner, MD, Hale, RJ, Esber, N, Riley, AF, Solomon, BD, Cho, M T, McWalter, K, Eyal, R, Hainlen, MK, Mendelsohn, BA, Porter, HM, Lanpher, BC, Lewis, AM, Savatt, J, Thiffault, I, Callewaert, B, Campeau, PM, Yang, XJ

المصدر: Yan , KZ , Rousseau , J , Machol , K , Cross , LA , Agre , KE , Gibson , CF , Goverde , A , Engleman , KL , Verdin , H , De Baere , E , Potocki , L , Zhou , DH , Cadieux-Dion , M , Bellus , GA , Wagner , MD , Hale , RJ , Esber , N , Riley , AF , Solomon , BD , Cho , M T , McWalter , K , Eyal , R , Hainlen , MK , Mendelsohn , BA , Porter , HM , Lanpher , BC , Lewis , AM , Savatt , J , Thiffault , I , Callewaert , B , Campeau , PM & Yang , XJ 2020 , ' Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer ' , Science advances , vol. 6 , no. 4 , eaax0021 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, article

URL: https://pure.eur.nl/en/publications/9136f873-ae1d-41e4-866f-1157ef2ac602

المؤلفون: Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet A-C, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel A-L, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette A-ME, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogne B, Kuechler A, Piton A, Klee EW, Lefebvre V, Clark KJ, Depienne C

المصدر: Genetics in Medicine, 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261308; https://eprints.ncl.ac.uk/fulltext.aspx?url=261308/6B3FC06A-3532-43E1-BE9D-F31306167F9B.pdf&pub_id=261308

الاتاحة: https://eprints.ncl.ac.uk/261308

المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A

المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8f
https://doi.org/10.1016/j.ajhg.2018.11.007

المؤلفون: Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T.T.M., Spillmann, R.C., Sullivan, J.A., Shashi, V., Jiang, Y.H., Stong, N., Fiala, E., Willing, M., Pfundt, R.P., Kleefstra, T., Cho, M.T., McLaughlin, H., Piera, M. Rosello, Orellana, C., Martinez, F., Caro-Llopis, A., Monfort, S., Roscioli, T., Nixon, C.Y., Buckley, M.F., Turner, A., Jones, W.D., Hasselt, P.M. van, Hofstede, F.C., Gassen, K.L.I. van, Brooks, A.S., Slegtenhorst, M.A. van, Lachlan, K., Sebastian, J., Madan-Khetarpal, S., Sonal, D., Sakkubai, N., Thevenon, J., Faivre, L., Maurel, A., Petrovski, S., Krantz, I.D., Tarpinian, J.M., Rosenfeld, J.A., Lee, B.H., Campeau, P.M.

المصدر: American Journal of Human Genetics; 164; 178; 0002-9297; 1; 104; ~American Journal of Human Genetics~164~178~~~0002-9297~1~104~~

URL: http://hdl.handle.net/2066/202800

المؤلفون: Machol, K., Jain, M., Almannai, M., Orand, T., Lu, J.T., Tran, A., Chen, Y., Schlesinger, A., Gibbs, R., Bonafe, L., Campos-Xavier, A.B., Unger, S., Superti-Furga, A., Lee, B.H., Campeau, P.M., Burrage, L.C.

المصدر: American journal of medical genetics. Part A, vol. 173, no. 3, pp. 733-739

Relation: info:eu-repo/semantics/altIdentifier/pmid/27888646; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_B512148737EB

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B512148737EB
https://doi.org/10.1002/ajmg.a.38059

المؤلفون: Zayek, A, Holmes, A, Moshe, Y Ben, Varghese, N, Keswani, S, Machol, K, Fernandes, C

المصدر: American Journal of the Medical Sciences; 2024 Supplement 1, Vol. 367, pS20-S20, 1p