المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM

المصدر: American journal of human genetics. 104(3):530-541

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140454820

المؤلفون: Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel A-L, Busk OL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh T-C, Ramsey K, de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C

المصدر: European Journal of Human Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302263; https://eprints.ncl.ac.uk/fulltext.aspx?url=302263/55C1668B-A449-484D-8086-9204792C3448.pdf&pub_id=302263

الاتاحة: https://eprints.ncl.ac.uk/302263

المؤلفون: Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schoneborn, S, Norman, A, Neto, OLA, Dusl, M, Yuan, XD, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzman-Vega, FJ, Pena, LDM, Smith, EC, Steinlin, M, Babiker, MOE, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, PF, Yang, YP, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Schoser, B, Rosler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, EJ, Bonnemann, CG, Gleeson, JG, Martini, R, Janke, C, Senderek, J

المصدر: The EMBO journal. 37(23)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139741553

المؤلفون: Pagnamenta, AT, Belles, RS, Salbert, BA, Wentzensen, IM, Guillen Sacoto, MJ, Santos, FJR, Caffo, A, Ferla, M, Banos-Pinero, B, Pawliczak, K, Makvand, M, Najmabadi, H, Maroofian, R, Lester, T, Yanez-Felix, AL, Villarroel-Cortes, CE, Xia, F, Al Fayez, K, Al Hashem, A, Shears, D, Irving, M, Offiah, AC, Kariminejad, A, Taylor, JC

المصدر: Clinical Genetics (2023) (In press).

مصطلحات موضوعية: bone diseases, medical genetics, skeletal dysplasia, whole genome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf; https://discovery.ucl.ac.uk/id/eprint/10168391/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf
https://discovery.ucl.ac.uk/id/eprint/10168391/

المؤلفون: Saffari, A, Lau, T, Tajsharghi, H, Karimiani, EG, Kariminejad, A, Efthymiou, S, Zifarelli, G, Sultan, T, Toosi, MB, Sedighzadeh, S, Siu, VM, Ortigoza-Escobar, JD, AlShamsi, AM, Ibrahim, S, Al-Sannaa, NA, Al-Hertani, W, Sandra, W, Tarnopolsky, M, Alavi, S, Li, C, Day-Salvatore, D-L, Martínez-González, MJ, Levandoski, KM, Bedoukian, E, Madan-Khetarpal, S, Idleburg, MJ, Menezes, MJ, Siddharth, A, Platzer, K, Oppermann, H, Smitka, M, Collins, F, Lek, M, Shahrooei, M, Ghavideldarestani, M, Herman, I, Rendu, J, Faure, J, Baker, J, Bhambhani, V, Calderwood, L, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Hashemi, N, Doosti, M, Safi, M, Ahangari, N, Torbati, PN, Abedini, S, Salpietro, V, Gulec, EY, Eshaghian, S, Ghazavi, M, Pascher, MT, Vogel, M, Abicht, A, Moutton, S, Bruel, A-L, Rieubland, C, Gallati, S, Strom, TM, Lochmüller, H, Mohammadi, MH, Alvi, JR, Zackai, EH, Keena, BA, Skraban, CM, Berger, SI, Andrew, EH, Rahimian, E, Morrow, MM, Wentzensen, IM, Millan, F, Henderson, LB, Dafsari, HS, Jungbluth, H, Gomez-Ospina, N, McRae, A, Peter, M, Veltra, D, Marinakis, NM, Sofocleous, C, Ashrafzadeh, F, Pehlivan, D, Lemke, JR, Melki, J, Benezit, A, Bauer, P, Weis, D, Lupski, JR, Senderek, J, Christodoulou, J, Chung, WK, Goodchild, R, Offiah, AC, Moreno-De-Luca, A, Suri, M, Ebrahimi-Fakhari, D, Houlden, H, Maroofian, R

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf; Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; et al. Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; Siu, VM; Ortigoza-Escobar, JD; AlShamsi, AM; Ibrahim, S; Al-Sannaa, NA; Al-Hertani, W; Sandra, W; Tarnopolsky, M; Alavi, S; Li, C; Day-Salvatore, D-L; Martínez-González, MJ; Levandoski, KM; Bedoukian, E; Madan-Khetarpal, S; Idleburg, MJ; Menezes, MJ; Siddharth, A; Platzer, K; Oppermann, H; Smitka, M; Collins, F; Lek, M; Shahrooei, M; Ghavideldarestani, M; Herman, I; Rendu, J; Faure, J; Baker, J; Bhambhani, V; Calderwood, L; Akhondian, J; Imannezhad, S; Mirzadeh, HS; Hashemi, N; Doosti, M; Safi, M; Ahangari, N; Torbati, PN; Abedini, S; Salpietro, V; Gulec, EY; Eshaghian, S; Ghazavi, M; Pascher, MT; Vogel, M; Abicht, A; Moutton, S; Bruel, A-L; Rieubland, C; Gallati, S; Strom, TM; Lochmüller, H; Mohammadi, MH; Alvi, JR; Zackai, EH; Keena, BA; Skraban, CM; Berger, SI; Andrew, EH; Rahimian, E; Morrow, MM; Wentzensen, IM; Millan, F; Henderson, LB; Dafsari, HS; Jungbluth, H; Gomez-Ospina, N; McRae, A; Peter, M; Veltra, D; Marinakis, NM; Sofocleous, C; Ashrafzadeh, F; Pehlivan, D; Lemke, JR; Melki, J; Benezit, A; Bauer, P; Weis, D; Lupski, JR; Senderek, J; Christodoulou, J; Chung, WK; Goodchild, R; Offiah, AC; Moreno-De-Luca, A; Suri, M; Ebrahimi-Fakhari, D; Houlden, H; Maroofian, R (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 1460-2156 https://doi.org/10.1093/brain/awad039 SGUL Authors: Karimiani, Ehsan Ghayoor

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115591/
https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf
https://doi.org/10.1093/brain/awad039

المؤلفون: Küry, S, Zhang, J, Besnard, T, Caro-Llopis, A, Zeng, X, Robert, SM, Josiah, SS, Kiziltug, E, Denommé-Pichon, A-S, Cogné, B, Kundishora, AJ, Hao, LT, Li, H, Stevenson, RE, Louie, RJ, Deb, W, Torti, E, Vignard, V, McWalter, K, Raymond, FL, Rajabi, F, Ranza, E, Grozeva, D, Coury, SA, Blanc, X, Brischoux-Boucher, E, Keren, B, Õunap, K, Reinson, K, Ilves, P, Wentzensen, IM, Barr, EE, Guihard, SH, Charles, P, Seaby, EG, Monaghan, KG, Rio, M, van Bever, Y, van Slegtenhorst, M, Chung, WK, Wilson, A, Quinquis, D, Bréhéret, F, Retterer, K, Lindenbaum, P, Scalais, E, Rhodes, L, Stouffs, K, Pereira, EM, Berger, SM, Milla, SS, Jaykumar, AB, Cobb, MH, Panchagnula, S, Duy, PQ, Vincent, M, Mercier, S, Gilbert-Dussardier, B, Le Guillou, X, Audebert-Bellanger, S, Odent, S, Schmitt, S, Boisseau, P, Bonneau, D, Toutain, A, Colin, E, Pasquier, L, Redon, R, Bouman, A, Rosenfeld, JA, Friez, MJ, Pérez-Peña, H, Akhtar Rizvi, SR, Haider, S, Antonarakis, SE, Schwartz, CE, Martínez, F, Bézieau, S, Kahle, KT, Isidor, B

مصطلحات موضوعية: Exome sequencing, KCC2, Neurodevelopmental disease, WNK3, X-linked intellectual disability

Relation: Genetics in Medicine; orcid:0000-0001-8683-509X (Zhang, Jinwei); ScopusID: 24385918800 (Zhang, Jinwei); ResearcherID: N-8584-2017 (Zhang, Jinwei); Published online 9 June 2022; https://doi.org/10.1016/j.gim.2022.05.009; PRG471; IEC\NSFC\201094; R01NS073854; http://hdl.handle.net/10871/129894

الاتاحة: http://hdl.handle.net/10871/129894
https://doi.org/10.1016/j.gim.2022.05.009

المؤلفون: Fasham, J, Lin, S, Ghosh, P, Radio, FC, Farrow, EG, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, BA, Rawlins, LE, Wenger, OK, Gunning, AC, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, MC, Neuhann, TM, Zackai, EH, Keena, B, Capasso, J, Levin, AV, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, IM, Jackson, A, Chandler, KE, Coban-Akdemir, ZH, Posey, JE, Banka, S, Lupski, JR, Sheppard, SE, Tartaglia, M, Triggs-Raine, B, Crosby, AH, Baple, EL

مصطلحات موضوعية: Congenital heart disease, Facial dysmorphism, Hyaluronidase, Myopia, Orofacial clefting, Alleles, Animals, Cell Adhesion Molecules, Cleft Lip, Cleft Palate, GPI-Linked Proteins, Genetic Association Studies, Humans, Hyaluronoglucosaminidase, Mice, Phenotype

وصف الملف: 631-644; Print-Electronic

Relation: https://www.ncbi.nlm.nih.gov/pubmed/34906488; https://www.ncbi.nlm.nih.gov/clinvar; Genet Med, 24(3); orcid:0000-0002-7614-9202 (Fasham, James); orcid:0000-0003-1122-8396 (Lin, Siying); orcid:0000-0002-3546-1726 (Chioza, Barry A); ScopusID: 6603239784 (Chioza, Barry A); ResearcherID: C-1586-2008 (Chioza, Barry A); orcid:0000-0003-3667-9054 (Crosby, Andrew H); orcid:0000-0002-6637-3411 (Baple, Emma L); ScopusID: 16506238900 (Baple, Emma L); Vol. 24(3), pp. 631-644; https://doi.org/10.1016/j.gim.2021.10.014; http://hdl.handle.net/10871/129263; Genetics in Medicine

الاتاحة: http://hdl.handle.net/10871/129263
https://doi.org/10.1016/j.gim.2021.10.014

المؤلفون: Palmer, EE, Whitton, C, Hashem, MO, Clark, RD, Ramanathan, S, Starr, LJ, Velasco, D, De Dios, JK, Singh, E, Cormier‐Daire, V, Chopra, M, Rodan, LH, Nellaker, C, Lakhani, S, Mallack, EJ, Panzer, K, Sidhu, A, Wentzensen, IM, Lacombe, D, Michaud, V, Alkuraya, FS

Relation: https://ora.ox.ac.uk/objects/uuid:7d0a0dff-a274-4d4f-b914-a5fe1f22a738; https://doi.org/10.1111/cge.14022

الاتاحة: https://doi.org/10.1111/cge.14022
https://ora.ox.ac.uk/objects/uuid:7d0a0dff-a274-4d4f-b914-a5fe1f22a738

المؤلفون: Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, ., Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H

المصدر: American Journal of Human Genetics , 107 (2) pp. 311-324. (2020)

مصطلحات موضوعية: aminoacyl-tRNA synthetase, developmental delay, epilepsy, neurodevelopment, neuropathy, next generation sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10107091/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10107091/

المؤلفون: Lee, Y-R, Khan, K, Armfield-Uhas, K, Srikanth, S, Thompson, NA, Pardo, M, Yu, L, Norris, JW, Peng, Y, Gripp, KW, Aleck, KA, Li, C, Spence, E, Choi, T-I, Kwon, SJ, Park, H-M, Yu, D, Do Heo, W, Mooney, MR, Baig, SM, Wentzensen, IM, Telegrafi, A, McWalter, K, Moreland, T, Roadhouse, C, Ramsey, K, Lyons, MJ, Skinner, C, Alexov, E, Katsanis, N, Stevenson, RE, Choudhary, JS, Adams, DJ, Kim, C-H, Davis, EE, Schwartz, CE

المساهمون: Pardo Calvo, Maria Mercedes, Choudhary, Jyoti

مصطلحات موضوعية: NIH 3T3 Cells, Cell Nucleus, Spliceosomes, Animals, Zebrafish, Humans, Mice, Mental Retardation, X-Linked, Syndrome, RNA-Binding Proteins, DNA-Binding Proteins, Zebrafish Proteins, RNA, Messenger, Small Nuclear, Pedigree, Family, Gene Expression Regulation, Developmental, RNA Splicing, Protein Transport, Phenotype, Mutation, Missense, Adult, Child, Preschool, Female, Male

وصف الملف: Electronic; ?; application/pdf

Relation: Nature communications, 2020, 11 (1), pp. 3698 - ?; https://repository.icr.ac.uk/handle/internal/4022

الاتاحة: https://repository.icr.ac.uk/handle/internal/4022
https://doi.org/10.1038/s41467-020-17452-6

المؤلفون: Bell, S, Rousseau, J, Peng, H, Aouabed, Z, Priam, P, Theroux, J-F, Jefri, M, Tanti, A, Wu, H, Kolobova, I, Silviera, H, Manzano-Vargas, K, Ehresmann, S, Hamdan, FF, Hettige, N, Zhang, X, Antonyan, L, Nassif, C, Ghaloul-Gonzalez, L, Sebastian, J, Vockley, J, Begtrup, AG, Wentzensen, IM, Crunk, A, Nicholls, RD, Herman, KC, Deignan, JL, Al-Hertani, W, Efthymiou, S, Salpietro, V, Miyake, N, Makita, Y, Matsumoto, N, Ostern, R, Houge, G, Hafstrom, M, Fassi, E, Houlden, H, Wassink-Ruiter, JSK, Nelson, D, Goldstein, A, Dabir, T, van Gils, J, Bourgeron, T, Delorme, R, Cooper, GM, Martinez, JE, Finnila, CR, Carmant, L, Lortie, A, Oegema, R, van Gassen, K, Mehta, SG, Huhle, D, Abou Jamra, R, Martin, S, Brunner, HG, Lindhout, D, Au, M, Graham, JM, Coubes, C, Turecki, G, Gravel, S, Mechawar, N, Rossignol, E, Michaud, JL, Lessard, J, Ernst, C, Campeau, PM

المصدر: The American Journal of Human Genetics , 104 (5) pp. 815-834. (2019)

مصطلحات موضوعية: intellectual disability, seizure, ACTL6B, stem cells, genetic engineering, neurodevelopment

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10078636/1/AJHG%20manuscript%20ACTL6B.pdf; https://discovery.ucl.ac.uk/id/eprint/10078636/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10078636/1/AJHG%20manuscript%20ACTL6B.pdf
https://discovery.ucl.ac.uk/id/eprint/10078636/

المؤلفون: Blok, LS, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, MA, Sahai, I, Stumpel, CTRM, Stegmann, APA, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, WT, Cohen, ASA, Agbahovbe, R, Innes, AM, Au, PYB, Rankin, J, Anderson, IJ, Skinner, SA, Louie, RJ, Warren, HE, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, JH, Price, S, Schnur, RE, Douglas, G, Wentzensen, IM, Zweier, C, Reis, A, Bialer, MG, Moore, C, Koopmans, M, Brilstra, EH, Monroe, GR, van Gassen, KLI, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, JA, Wortmann, SB, Jakielski, KJ, Strand, EA, Kloth, K, Bierhals, T, The DDD Study, Roberts, JD, Petrovich, RM, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, HG, Wade, PA, Fisher, SE, Campeau, PM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/148415/7/correction%20s41467-019-10161-9.pdf; Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723

الاتاحة: https://eprints.whiterose.ac.uk/148415/
https://eprints.whiterose.ac.uk/148415/7/correction%20s41467-019-10161-9.pdf

المؤلفون: Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, MA, Sahai, I, Stumpel, CTRM, Stegmann, APA, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, WT, Cohen, ASA, Agbahovbe, R, Innes, AM, Au, PYB, Rankin, J, Anderson, IJ, Skinner, SA, Louie, RJ, Warren, HE, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, JH, Price, S, Schnur, RE, Douglas, G, Wentzensen, IM, Zweier, C, Reis, A, Bialer, MG, Moore, C, Koopmans, M, Brilstra, EH, Monroe, GR, van Gassen, KLI, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, JA, Wortmann, SB, Jakielski, KJ, Strand, EA, Kloth, K, Bierhals, T, Roberts, JD, Petrovich, RM, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, HG, Wade, PA, Fisher, SE, Campeau, PM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/158490/1/s41467-018-06014-6.pdf; Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723

الاتاحة: https://eprints.whiterose.ac.uk/158490/
https://eprints.whiterose.ac.uk/158490/1/s41467-018-06014-6.pdf

المؤلفون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, MK, Von Allmen, G, Cho, MT, McDonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, JA, Bacino, CA, Mignot, C, Power, LH, Harris, CJ, Marjanovic, D, Moller, RS, Hammer, TB, Filppula, RK, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, JM, Hallinan, B, Si, Y, Wentzensen, IM, Zou, FG, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

المساهمون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, M, Von Allmen, G, Cho, M, Mcdonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, J, Bacino, C, Mignot, C, Power, L, Harris, C, Marjanovic, D, Moller, R, Hammer, T, Filppula, R, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, J, Hallinan, B, Si, Y, Wentzensen, I, Zou, F, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay, Adenosine Triphosphate, Atrophy, Child, Homeostasis, Humans, Infant, Lysosomes, Phenotype, Brain Diseases, Epilepsy, Intellectual Disability, Spasms, Infantile, Vacuolar Proton-Translocating ATPases, Settore MED/04 - PATOLOGIA GENERALE, Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/2108/308735; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538

الاتاحة: https://hdl.handle.net/2108/308735
https://doi.org/10.1093/brain/awac145

المؤلفون: Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, Hayeems, RZ, Rodan, LH, Schwartz, MA, Picker, J, Lynch, SA, Gupta, A, Rasmussen, KJ, Schimmenti, LA, Klee, EW, Niu, Z, Agre, KE, Chilton, I, Chung, WK, Revah-Politi, A, Au, PYB, Griffith, C, Racobaldo, M, Raas-Rothschild, A, Ben Zeev, B, Barel, O, Moutton, S, Morice-Picard, F, Carmignac, V, Cornaton, J, Marle, N, Devinsky, O, Stimach, C, Wechsler, SB, Hainline, BE, Sapp, K, Willems, M, Bruel, A, Dias, K-R, Evans, C-A, Roscioli, T, Sachdev, R, Temple, SEL, Zhu, Y, Baker, JJ, Scheffer, IE, Gardiner, FJ, Schneider, AL, Muir, AM, Mefford, HC, Crunk, A, Heise, EM, Millan, F, Monaghan, KG, Person, R, Rhodes, L, Richards, S, Wentzensen, IM, Cogne, B, Isidor, B, Nizon, M, Vincent, M, Besnard, T, Piton, A, Marcelis, C, Kato, K, Koyama, N, Ogi, T, Goh, ES-Y, Richmond, C, Amor, DJ, Boyce, JO, Morgan, AT, Hildebrand, MS, Kaspi, A, Bahlo, M, Fridriksdottir, R, Katrinardottir, H, Sulem, P, Stefansson, K, Bjornsson, HT, Mandelstam, S, Morleo, M, Mariani, M, Scala, M, Accogli, A, Torella, A, Capra, V, Wallis, M, Jansen, S, Waisfisz, Q, de Haan, H, Sadedin, S, Lim, SC, White, SM, Ascher, DB, Schenck, A, Lockhart, PJ, Christodoulou, J, Tan, TY

Relation: pii: S0002-9297(22)00098-2; Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W. ,. Tan, T. Y. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 109 (4), pp.601-617. https://doi.org/10.1016/j.ajhg.2022.03.002.; http://hdl.handle.net/11343/316396

الاتاحة: http://hdl.handle.net/11343/316396

المؤلفون: Gripp, KW, Smithson, SF, Scurr, IJ, Baptista, J, Majumdar, A, Pierre, G, Williams, M, Henderson, LB, Wentzensen, IM, McLaughlin, H, Leeuwen, L, Simon, MEH, van Binsbergen, E, Dinulos, MBP, Kaplan, JD, McRae, A, Superti-Furga, A, Good, J-M, Kutsche, K

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Channelopathies, Child, Craniofacial Abnormalities, Ether-A-Go-Go Potassium Channels, Female, Fibromatosis, Gingival, Gain of Function Mutation, Hallux, Hand Deformities, Congenital, Humans, Intellectual Disability, Male, Nails, Malformed, Phenotype, Potassium Channels, Small-Conductance Calcium-Activated Potassium Channels, Thumb

وصف الملف: 1384-1395; Print-Electronic; application/pdf

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/19169

الاتاحة: http://hdl.handle.net/10026.1/19169
https://doi.org/10.1038/s41431-021-00818-9

المؤلفون: Chowdhury, F, Wang, L, Al-Raqad, M, Amor, DJ, Baxova, A, Bendova, S, Biamino, E, Brusco, A, Caluseriu, O, Cox, NJ, Froukh, T, Gunay-Aygun, M, Hancarova, M, Haynes, D, Heide, S, Hoganson, G, Kaname, T, Keren, B, Kosaki, K, Kubota, K, Lemons, JM, Magrina, MA, Mark, PR, McDonald, MT, Montgomery, S, Morley, GM, Ohnishi, H, Okamoto, N, Rodriguez-Buritica, D, Rump, P, Sedlacek, Z, Schatz, K, Streff, H, Uehara, T, Walia, JS, Wheeler, PG, Wiesener, A, Zweier, C, Kawakami, K, Wentzensen, IM, Lalani, SR, Siu, VM, Bi, W, Balci, TB

Relation: pii: S1098-3600(21)05035-8; Chowdhury, F., Wang, L., Al-Raqad, M., Amor, D. J., Baxova, A., Bendova, S., Biamino, E., Brusco, A., Caluseriu, O., Cox, N. J., Froukh, T., Gunay-Aygun, M., Hancarova, M., Haynes, D., Heide, S., Hoganson, G., Kaname, T., Keren, B., Kosaki, K. ,. Balci, T. B. (2021). Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. GENETICS IN MEDICINE, 23 (7), pp.1234-1245. https://doi.org/10.1038/s41436-021-01129-6.; http://hdl.handle.net/11343/309565

الاتاحة: http://hdl.handle.net/11343/309565

المؤلفون: Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klockner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC

المصدر: Genetics in Medicine, 2021

Relation: https://eprints.ncl.ac.uk/272921

الاتاحة: https://eprints.ncl.ac.uk/272921

المؤلفون: Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong K-R, Park S-M, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM

المصدر: Nature Communications, 1 December 2019

Relation: https://eprints.ncl.ac.uk/272082

الاتاحة: https://eprints.ncl.ac.uk/272082