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Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.131-131, Article 131
2015
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The New England journal of medicine, 2021-09, Vol.385 (14), p.1292-1301
- Chai, Guoliang
- Szenker-Ravi, Emmanuelle
- Chung, Changuk
- Li, Zhen
- Wang, Lu
- Khatoo, Muznah
- Marshall, Trevor
- Jiang, Nan
- Yang, Xiaoxu
- McEvoy-Venneri, Jennifer
- Stanley, Valentina
- Anzenberg, Paula
- Lang, Nhi
- Wazny, Vanessa
- Yu, Jia
- Virshup, David M
- Nygaard, Rie
- Mancia, Filippo
- Merdzanic, Rijad
- Toralles, Maria B.P
- Pitanga, Paula M.L
- Puri, Ratna D
- Hernan, Rebecca
- Chung, Wendy K
- Bertoli-Avella, Aida M
- Al-Sannaa, Nouriya
- Zaki, Maha S
- Willert, Karl
- Reversade, Bruno
- Gleeson, Joseph G
2021
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Brain (London, England : 1878), 2021-11, Vol.144 (10), p.e85-e85
- Medico Salsench, Eva
- Maroofian, Reza
- Deng, Ruizhi
- Lanko, Kristina
- Nikoncuk, Anita
- Pérez, Belén
- Sánchez-Lijarcio, Obdulia
- Ibáñez-Mico, Salvador
- Wojcik, Antonina
- Vargas, Marcelo
- Abbas Al-Sannaa, Nouriya
- Girgis, Marian Y
- Silveira, Tainá Regina Damaceno
- Bauer, Peter
- Schroeder, Audrey
- Fong, Chin-To
- Begtrup, Amber
- Babaei, Meisam
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Doosti, Mohammad
- Ahangari, Najmeh
- Najarzadeh Torbati, Paria
- Ghayoor Karimiani, Ehsan
- Murphy, David
- Cali, Elisa
- Kaya, Ibrahim H
- AlMuhaizea, Mohammad
- Colak, Dilek
- Cardona-Londoño, Kelly J
- Arold, Stefan T
- Houlden, Henry
- Bertoli-Avella, Aida
- Kaya, Namik
- Barakat, Tahsin Stefan
2021
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Annals of Saudi medicine, 2010-07, Vol.30 (4), p.271-277
2010
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Nature communications, 2017-07, Vol.8 (1), p.15910-15910, Article 15910
- Brechet, Aline
- Buchert, Rebecca
- Schwenk, Jochen
- Boudkkazi, Sami
- Zolles, Gerd
- Siquier-Pernet, Karine
- Schaber, Irene
- Bildl, Wolfgang
- Saadi, Abdelkrim
- Bole-Feysot, Christine
- Nitschke, Patrick
- Reis, Andre
- Sticht, Heinrich
- Al-Sanna'a, Nouriya
- Rolfs, Arndt
- Kulik, Akos
- Schulte, Uwe
- Colleaux, Laurence
- Abou Jamra, Rami
- Fakler, Bernd
2017
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The Journal of clinical investigation, 2022-10, Vol.132 (20), p.1-7
- Janssen, Erin
- Peters, Zachary
- Alosaimi, Mohammed F
- Smith, Emma
- Milin, Elena
- Stafstrom, Kelsey
- Wallace, Jacqueline G
- Platt, Craig D
- Chou, Janet
- Ansari, Yasmeen S. El
- Farsi, Tariq Al
- Ameziane, Najim
- Al-Ali, Ruslan
- Calvo, Maria
- Rocha, Maria Eugenia
- Bauer, Peter
- Al-Sannaa, Nouriya Abbas
- Sukaiti, Nashat Faud Al
- Alangari, Abdullah A
- Bertoli-Avella, Aida M
- Geha, Raif S
2022
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Molecular genetics & genomic medicine, 2013-07, Vol.1 (2), p.113-117
2013
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Kidney international reports, 2017-09, Vol.2 (5), p.956-960
2017
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Journal of community genetics, 2018-01, Vol.9 (1), p.65-70
2018
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JIMD Reports - Case and Research Reports, 2011/3, 2012-01, Vol.3, p.91-95
2012
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BMC neurology, 2015-10, Vol.15 (1), p.205-205, Article 205
2015
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Saudi medical journal, 2010-08, Vol.31 (8), p.931
2010
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Journal of pediatric surgery, 2008-06, Vol.43 (6), p.1213-1217
2008
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Molecular genetics & genomic medicine, 2013-07, Vol.1 (2), p.113-117
2013
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European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.176-182
- Trujillano, Daniel
- Bertoli-Avella, Aida M
- Kumar Kandaswamy, Krishna
- Weiss, Maximilian Er
- Köster, Julia
- Marais, Anett
- Paknia, Omid
- Schröder, Rolf
- Garcia-Aznar, Jose Maria
- Werber, Martin
- Brandau, Oliver
- Calvo Del Castillo, Maria
- Baldi, Caterina
- Wessel, Karen
- Kishore, Shivendra
- Nahavandi, Nahid
- Eyaid, Wafaa
- Al Rifai, Muhammad Talal
- Al-Rumayyan, Ahmed
- Al-Twaijri, Waleed
- Alothaim, Ali
- Alhashem, Amal
- Al-Sannaa, Nouriya
- Al-Balwi, Mohammed
- Alfadhel, Majid
- Rolfs, Arndt
- Abou Jamra, Rami
2017
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Diabetes (New York, N.Y.), 2011-03, Vol.60 (3), p.925-935
2011
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Journal of liver transplantation, 2021-04, Vol.2, p.100020, Article 100020
2021
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American journal of human genetics, 2021-01, Vol.108 (1), p.115-133
- Lin, Yuh-Charn
- Niceta, Marcello
- Muto, Valentina
- Vona, Barbara
- Pagnamenta, Alistair T.
- Maroofian, Reza
- Beetz, Christian
- van Duyvenvoorde, Hermine
- Dentici, Maria Lisa
- Lauffer, Peter
- Vallian, Sadeq
- Ciolfi, Andrea
- Pizzi, Simone
- Bauer, Peter
- Grüning, Nana-Maria
- Bellacchio, Emanuele
- Del Fattore, Andrea
- Petrini, Stefania
- Shaheen, Ranad
- Tiosano, Dov
- Halloun, Rana
- Pode-Shakked, Ben
- Albayrak, Hatice Mutlu
- Işık, Emregül
- Wit, Jan M.
- Dittrich, Marcus
- Freire, Bruna L.
- Bertola, Debora R.
- Jorge, Alexander A.L.
- Barel, Ortal
- Sabir, Ataf H.
- Al Tenaiji, Amal M.J.
- Taji, Sulaima M.
- Al-Sannaa, Nouriya
- Al-Abdulwahed, Hind
- Digilio, Maria Cristina
- Irving, Melita
- Anikster, Yair
- Bhavani, Gandham S.L.
- Girisha, Katta M.
- Haaf, Thomas
- Taylor, Jenny C.
- Dallapiccola, Bruno
- Alkuraya, Fowzan S.
- Yang, Ruey-Bing
- Tartaglia, Marco
2021
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American journal of human genetics, 2019-07, Vol.105 (1), p.213-220
- Dulovic-Mahlow, Marija
- Trinh, Joanne
- Kandaswamy, Krishna Kumar
- Braathen, Geir Julius
- Di Donato, Nataliya
- Rahikkala, Elisa
- Beblo, Skadi
- Werber, Martin
- Krajka, Victor
- Busk, Øyvind L.
- Baumann, Hauke
- Al-Sannaa, Nouriya Abbas
- Hinrichs, Frauke
- Affan, Rabea
- Navot, Nir
- Al Balwi, Mohammed A.
- Oprea, Gabriela
- Holla, Øystein L.
- Weiss, Maximilian E.R.
- Jamra, Rami A.
- Kahlert, Anne-Karin
- Kishore, Shivendra
- Tveten, Kristian
- Vos, Melissa
- Rolfs, Arndt
- Lohmann, Katja
2019
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Brain (London, England : 1878), 2023-07, Vol.146 (7), p.3003-3013
- Tangeraas, Trine
- Constante, Juliana R
- Backe, Paul Hoff
- Oyarzábal, Alfonso
- Neugebauer, Julia
- Weinhold, Natalie
- Boemer, Francois
- Debray, François G
- Ozturk-Hism, Burcu
- Evren, Gumus
- Tuba, Eminoglu F
- Ummuhan, Oncul
- Footitt, Emma
- Davison, James
- Martinez, Caroline
- Bueno, Clarissa
- Machado, Irene
- Rodríguez-Pombo, Pilar
- Al-Sannaa, Nouriya
- De Los Santos, Mariela
- López, Jordi Muchart
- Ozturkmen-Akay, Hatice
- Karaca, Meryem
- Tekin, Mustafa
- Pajares, Sonia
- Ormazabal, Aida
- Stoway, Stephanie D
- Artuch, Rafael
- Dixon, Marjorie
- Mørkrid, Lars
- García-Cazorla, Angeles
2023
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Genetics in medicine, 2021-08, Vol.23 (8), p.1551-1568
- Bertoli-Avella, Aida M.
- Kandaswamy, Krishna K.
- Khan, Suliman
- Ordonez-Herrera, Natalia
- Tripolszki, Kornelia
- Beetz, Christian
- Rocha, Maria Eugenia
- Urzi, Alize
- Hotakainen, Ronja
- Leubauer, Anika
- Al-Ali, Ruslan
- Karageorgou, Vasiliki
- Moldovan, Oana
- Dias, Patrícia
- Alhashem, Amal
- Tabarki, Brahim
- Albalwi, Mohammed A.
- Alswaid, Abdulrahman Faiz
- Al-Hassnan, Zuhair N.
- Alghamdi, Malak Ali
- Hadipour, Zahra
- Hadipour, Fatemeh
- Al Hashmi, Nadia
- Al-Gazali, Lihadh
- Cheema, Huma
- Zaki, Maha S.
- Hüning, Irina
- Alfares, Ahmed
- Eyaid, Wafaa
- Al Mutairi, Fuad
- Alfadhel, Majid
- Alkuraya, Fowzan S.
- Al-Sannaa, Nouriya Abbas
- AlShamsi, Aisha M.
- Ameziane, Najim
- Rolfs, Arndt
- Bauer, Peter
2021
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Human genetics, 2018-09, Vol.137 (9), p.753-768
- Bramswig, Nuria C.
- Bertoli-Avella, Aida M.
- Albrecht, Beate
- Al Aqeel, Aida I.
- Alhashem, Amal
- Al-Sannaa, Nouriya
- Bah, Maissa
- Bröhl, Katharina
- Depienne, Christel
- Dorison, Nathalie
- Doummar, Diane
- Ehmke, Nadja
- Elbendary, Hasnaa M.
- Gorokhova, Svetlana
- Héron, Delphine
- Horn, Denise
- James, Kiely
- Keren, Boris
- Kuechler, Alma
- Ismail, Samira
- Issa, Mahmoud Y.
- Marey, Isabelle
- Mayer, Michèle
- McEvoy-Venneri, Jennifer
- Megarbane, Andre
- Mignot, Cyril
- Mohamed, Sarar
- Nava, Caroline
- Philip, Nicole
- Ravix, Cecile
- Rolfs, Arndt
- Sadek, Abdelrahim Abdrabou
- Segebrecht, Lara
- Stanley, Valentina
- Trautman, Camille
- Valence, Stephanie
- Villard, Laurent
- Wieland, Thomas
- Engels, Hartmut
- Strom, Tim M.
- Zaki, Maha S.
- Gleeson, Joseph G.
- Lüdecke, Hermann-Josef
- Bauer, Peter
- Wieczorek, Dagmar
2018
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European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.592-598
2018
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Clinical dysmorphology, 2009-10, Vol.18 (4), p.188
2009
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American journal of human genetics, 2012-11, Vol.91 (5), p.897-905
2012
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