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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2136-2149
2021
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American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.370-376
2021
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Annals of neurology, 2017-12, Vol.82 (6), p.1004-1015
- Maas, Roeltje R.
- Iwanicka‐Pronicka, Katarzyna
- Kalkan Ucar, Sema
- Alhaddad, Bader
- AlSayed, Moeenaldeen
- Al‐Owain, Mohammed A.
- Al‐Zaidan, Hamad I.
- Balasubramaniam, Shanti
- Barić, Ivo
- Bubshait, Dalal K.
- Burlina, Alberto
- Christodoulou, John
- Chung, Wendy K.
- Colombo, Roberto
- Darin, Niklas
- Freisinger, Peter
- Garcia Silva, Maria Teresa
- Grunewald, Stephanie
- Haack, Tobias B.
- van Hasselt, Peter M.
- Hikmat, Omar
- Hörster, Friederike
- Isohanni, Pirjo
- Ramzan, Khushnooda
- Kovacs‐Nagy, Reka
- Krumina, Zita
- Martin‐Hernandez, Elena
- Mayr, Johannes A.
- McClean, Patricia
- De Meirleir, Linda
- Naess, Karin
- Ngu, Lock H.
- Pajdowska, Magdalena
- Rahman, Shamima
- Riordan, Gillian
- Riley, Lisa
- Roeben, Benjamin
- Rutsch, Frank
- Santer, Rene
- Schiff, Manuel
- Seders, Martine
- Sequeira, Silvia
- Sperl, Wolfgang
- Staufner, Christian
- Synofzik, Matthis
- Taylor, Robert W.
- Trubicka, Joanna
- Tsiakas, Konstantinos
- Unal, Ozlem
- Wassmer, Evangeline
- Wedatilake, Yehani
- Wolff, Toni
- Prokisch, Holger
- Morava, Eva
- Pronicka, Ewa
- Wevers, Ron A.
- de Brouwer, Arjan P.
- Wortmann, Saskia B.
2017
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American journal of medical genetics. Part A, 2021, Vol.185 (7), p.2136-2149
2021
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American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2629-2640
2012
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2850-2857
2018
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American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1009-1016
2017
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Molecular genetics and metabolism reports, 2019-03, Vol.18, p.22-29
2019
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International journal of pediatrics & adolescent medicine, 2016-03, Vol.3 (1), p.1-6
2016
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Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.17-23
2017
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Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.263-267
2010
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Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.688-690
2011
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Genes, 2018-05, Vol.9 (5), p.267
2018
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Journal of bone and mineral metabolism, 2008-11, Vol.26 (6), p.648-652
2008
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American journal of human genetics, 2013-10, Vol.93 (4), p.721-726
2013
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Genetics in medicine, 2016-06, Vol.18 (6), p.554-562
- Patel, Nisha
- Aldahmesh, Mohammed A.
- Alkuraya, Hisham
- Anazi, Shamsa
- Alsharif, Hadeel
- Khan, Arif O.
- Sunker, Asma
- Al-mohsen, Saleh
- Abboud, Emad B.
- Nowilaty, Sawsan R.
- Alowain, Mohammed
- Al-Zaidan, Hamad
- Al-Saud, Bandar
- Alasmari, Ali
- Abdel-Salam, Ghada M.H.
- Abouelhoda, Mohamed
- Abdulwahab, Firdous M.
- Ibrahim, Niema
- Naim, Ewa
- Al-Younes, Banan
- E. AlMostafa, Abeer
- AlIssa, Abdulelah
- Hashem, Mais
- Buzovetsky, Olga
- Xiong, Yong
- Monies, Dorota
- Altassan, Nada
- Shaheen, Ranad
- Al-Hazzaa, Selwa A.F.
- Alkuraya, Fowzan S.
2016
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Omics (Larchmont, N.Y.), 2020-03, Vol.24 (3), p.160
- Aldosary, Mazhor
- Al-Bakheet, AlBandary
- Al-Dhalaan, Hesham
- Almass, Rawan
- Alsagob, Maysoon
- Al-Younes, Banan
- AlQuait, Laila
- Mustafa, Osama Mufid
- Bulbul, Mustafa
- Rahbeeni, Zuhair
- Alfadhel, Majid
- Chedrawi, Aziza
- Al-Hassnan, Zuhair
- AlDosari, Mohammed
- Al-Zaidan, Hamad
- Al-Muhaizea, Mohammad A
- AlSayed, Moeenaldeen D
- Salih, Mustafa A
- AlShammari, Mai
- Faiyaz-Ul-Haque, Muhammad
- Chishti, Mohammad Azhar
- Al-Harazi, Olfat
- Al-Odaib, Ali
- Kaya, Namik
- Colak, Dilek
2020
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European journal of medical genetics, 2015-05, Vol.58 (5), p.293-299
2015
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European journal of pediatrics, 2014-05, Vol.173 (5), p.647-653
2014
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Intractable & Rare Diseases Research, 2016, Vol.5(3), pp.227-230
2016
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Ophthalmic genetics, 2019-07, Vol.40 (4), p.313-322
2019
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Genes, 2018-05, Vol.9 (5)
2018
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European journal of pediatrics, 2010-08, Vol.169 (8), p.1029-1032
2010
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European journal of pediatrics, 2009-12, Vol.168 (12), p.1467-1471
2009
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Clinical & developmental immunology, 2010-01, Vol.2010, p.586342-7
2010
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- American Journal Of Medical Genetics. Part A
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