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European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.525-528
2020
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American journal of human genetics, 2013-08, Vol.93 (2), p.313-320
2013
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American journal of human genetics, 2011-05, Vol.88 (5), p.536-547
2011
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Human genetics, 2020-05, Vol.139 (5), p.615-622
2020
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American journal of human genetics, 2016-01, Vol.98 (1), p.210-215
2016
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American journal of human genetics, 2013-09, Vol.93 (3), p.482-495
- Gai, Xiaowu
- Ghezzi, Daniele
- Johnson, Mark A.
- Biagosch, Caroline A.
- Shamseldin, Hanan E.
- Haack, Tobias B.
- Reyes, Aurelio
- Tsukikawa, Mai
- Sheldon, Claire A.
- Srinivasan, Satish
- Gorza, Matteo
- Kremer, Laura S.
- Wieland, Thomas
- Strom, Tim M.
- Polyak, Erzsebet
- Place, Emily
- Consugar, Mark
- Ostrovsky, Julian
- Vidoni, Sara
- Robinson, Alan J.
- Wong, Lee-Jun
- Sondheimer, Neal
- Salih, Mustafa A.
- Al-Jishi, Emtethal
- Raab, Christopher P.
- Bean, Charles
- Furlan, Francesca
- Parini, Rossella
- Lamperti, Costanza
- Mayr, Johannes A.
- Konstantopoulou, Vassiliki
- Huemer, Martina
- Pierce, Eric A.
- Meitinger, Thomas
- Freisinger, Peter
- Sperl, Wolfgang
- Prokisch, Holger
- Alkuraya, Fowzan S.
- Falk, Marni J.
- Zeviani, Massimo
2013
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Human genetics, 2020-04, Vol.139 (4), p.513-519
2020
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Human genetics, 2016-11, Vol.135 (11), p.1295-1298
2016
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PLoS genetics, 2007-05, Vol.3 (5), p.e80-e80
- Lu, Weining
- Quintero-Rivera, Fabiola
- Fan, Yanli
- Alkuraya, Fowzan S
- Donovan, Diana J
- Xi, Qiongchao
- Turbe-Doan, Annick
- Li, Qing-Gang
- Campbell, Craig G
- Shanske, Alan L
- Sherr, Elliott H
- Ahmad, Ayesha
- Peters, Roxana
- Rilliet, Benedict
- Parvex, Paloma
- Bassuk, Alexander G
- Harris, David J
- Ferguson, Heather
- Kelly, Chantal
- Walsh, Christopher A
- Gronostajski, Richard M
- Devriendt, Koenraad
- Higgins, Anne
- Ligon, Azra H
- Quade, Bradley J
- Morton, Cynthia C
- Gusella, James F
- Maas, Richard L
- van Heyningen, Veronica
2007
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Human genetics, 2015-09, Vol.134 (9), p.967-980
2015
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Human mutation, 2014-01, Vol.35 (1), p.36-40
2014
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The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417
- Collier, Jack J
- Guissart, Claire
- Oláhová, Monika
- Sasorith, Souphatta
- Piron-Prunier, Florence
- Suomi, Fumi
- Zhang, David
- Martinez-Lopez, Nuria
- Leboucq, Nicolas
- Bahr, Angela
- Azzarello-Burri, Silvia
- Reich, Selina
- Schöls, Ludger
- Polvikoski, Tuomo M
- Meyer, Pierre
- Larrieu, Lise
- Schaefer, Andrew M
- Alsaif, Hessa S
- Alyamani, Suad
- Zuchner, Stephan
- Barbosa, Inês A
- Deshpande, Charu
- Pyle, Angela
- Rauch, Anita
- Synofzik, Matthis
- Alkuraya, Fowzan S
- Rivier, François
- Ryten, Mina
- McFarland, Robert
- Delahodde, Agnès
- McWilliams, Thomas G
- Koenig, Michel
- Taylor, Robert W
2021
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Annals of clinical and translational neurology, 2020-06, Vol.7 (6), p.1013-1028
2020
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Journal of medical genetics, 2014-12, Vol.51 (12), p.814-816
2014
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Human genetics, 2024, Vol.143 (1), p.59-69
2024
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Human genetics, 2019-03, Vol.138 (3), p.221-229
2019
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Journal of medical genetics, 2012-10, Vol.49 (10), p.630-635
2012
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American journal of human genetics, 2020-12, Vol.107 (6), p.1178-1185
- Alzahrani, Fatema
- Kuwahara, Hiroyuki
- Long, Yongkang
- Al-Owain, Mohammed
- Tohary, Mohamed
- AlSayed, Moeenaldeen
- Mahnashi, Mohammed
- Fathi, Lana
- Alnemer, Maha
- Al-Hamed, Mohamed H.
- Lemire, Gabrielle
- Boycott, Kym M.
- Hashem, Mais
- Han, Wenkai
- Al-Maawali, Almundher
- Al Mahrizi, Feisal
- Al-Thihli, Khalid
- Gao, Xin
- Alkuraya, Fowzan S.
2020
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Human molecular genetics, 2012-10, Vol.21 (20), p.4521-4529
2012
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Blood, 2013-11, Vol.122 (23), p.3844-3845
2013
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Journal of AAPOS, 2013-02, Vol.17 (1), p.105-107
2013
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The Journal of clinical investigation, 2015-02, Vol.125 (2), p.636-651
- Yuan, Bo
- Pehlivan, Davut
- Karaca, Ender
- Patel, Nisha
- Charng, Wu-Lin
- Gambin, Tomasz
- Gonzaga-Jauregui, Claudia
- Sutton, V Reid
- Yesil, Gozde
- Bozdogan, Sevcan Tug
- Tos, Tulay
- Koparir, Asuman
- Koparir, Erkan
- Beck, Christine R
- Gu, Shen
- Aslan, Huseyin
- Yuregir, Ozge Ozalp
- Al Rubeaan, Khalid
- Alnaqeb, Dhekra
- Alshammari, Muneera J
- Bayram, Yavuz
- Atik, Mehmed M
- Aydin, Hatip
- Geckinli, B Bilge
- Seven, Mehmet
- Ulucan, Hakan
- Fenercioglu, Elif
- Ozen, Mustafa
- Jhangiani, Shalini
- Muzny, Donna M
- Boerwinkle, Eric
- Tuysuz, Beyhan
- Alkuraya, Fowzan S
- Gibbs, Richard A
- Lupski, James R
2015
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Human molecular genetics, 2019-09, Vol.28 (17), p.2900-2919
- Cheng, Hanyin
- Gottlieb, Leah
- Marchi, Elaine
- Kleyner, Robert
- Bhardwaj, Puja
- Rope, Alan F
- Rosenheck, Sarah
- Moutton, Sébastien
- Philippe, Christophe
- Eyaid, Wafaa
- Alkuraya, Fowzan S
- Toribio, Janet
- Mena, Rafael
- Prada, Carlos E
- Stessman, Holly
- Bernier, Raphael
- Wermuth, Marieke
- Kauffmann, Birgit
- Blaumeiser, Bettina
- Kooy, R Frank
- Baralle, Diana
- Mancini, Grazia M S
- Conway, Simon J
- Xia, Fan
- Chen, Zhao
- Meng, Linyan
- Mihajlovic, Ljubisa
- Marmorstein, Ronen
- Lyon, Gholson J
2019
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American journal of human genetics, 2018-05, Vol.102 (5), p.858-873
- Burns, David T.
- Donkervoort, Sandra
- Müller, Juliane S.
- Knierim, Ellen
- Bharucha-Goebel, Diana
- Faqeih, Eissa Ali
- Bell, Stephanie K.
- AlFaifi, Abdullah Y.
- Monies, Dorota
- Millan, Francisca
- Retterer, Kyle
- Dyack, Sarah
- MacKay, Sara
- Morales-Gonzalez, Susanne
- Giunta, Michele
- Munro, Benjamin
- Hudson, Gavin
- Scavina, Mena
- Baker, Laura
- Massini, Tara C.
- Lek, Monkol
- Hu, Ying
- Ezzo, Daniel
- AlKuraya, Fowzan S.
- Kang, Peter B.
- Griffin, Helen
- Foley, A. Reghan
- Schuelke, Markus
- Horvath, Rita
- Bönnemann, Carsten G.
2018
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Human genetics, 2016-02, Vol.135 (2), p.245-251
2016
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