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Annals of neurology, 2017-10, Vol.82 (4), p.562-577
- Moawia, Abubakar
- Shaheen, Ranad
- Rasool, Sajida
- Waseem, Syeda Seema
- Ewida, Nour
- Budde, Birgit
- Kawalia, Amit
- Motameny, Susanne
- Khan, Kamal
- Fatima, Ambrin
- Jameel, Muhammad
- Ullah, Farid
- Akram, Talia
- Ali, Zafar
- Abdullah, Uzma
- Irshad, Saba
- Höhne, Wolfgang
- Noegel, Angelika Anna
- Al‐Owain, Mohammed
- Hörtnagel, Konstanze
- Stöbe, Petra
- Baig, Shahid Mahmood
- Nürnberg, Peter
- Alkuraya, Fowzan Sami
- Hahn, Andreas
- Hussain, Muhammad Sajid
2017
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Muscle & nerve, 2014-10, Vol.50 (4), p.610-613
2014
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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, 2021-08, Vol.185 (8), p.2455-2463
2021
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American journal of medical genetics. Part B, Neuropsychiatric genetics, 2020-04, Vol.183 (3), p.172-180
2020
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American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.687-691
2018
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Clinical genetics, 2021-05, Vol.99 (5), p.724-731
- Al‐Bakheet, Albandary
- Tohary, Mohamed
- Khan, Sameena
- Chedrawi, Aziza
- Edrees, Alaa
- Tous, Ehab
- Al‐Mousa, Hamoud
- Al‐Otaibi, Lefian
- AlShahrani, Saif
- Alsagob, Maysoon
- Al‐Quait, Laila
- Almass, Rawan
- Al‐Joudi, Haya
- Monies, Dorota
- Al‐Semari, Abdulaziz
- Aldosary, Mazhor
- Daghestani, Maha
- Colak, Dilek
- Kaya, Namik
- Al‐Owain, Mohammed
2021
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Clinical genetics, 2019-02, Vol.95 (2), p.310-319
- Alshenaifi, Jumanah
- Ewida, Nour
- Anazi, Shams
- Shamseldin, Hanan E.
- Patel, Nisha
- Maddirevula, Sateesh
- Al‐Sheddi, Tarfa
- Alomar, Rana
- Alobeid, Eman
- Ibrahim, Niema
- Hashem, Mais
- Abdulwahab, Firdous
- Jacob, Minnie
- Alhashem, Amal
- Alzaidan, Hamad I.
- Seidahmed, Mohammed Z.
- Alhashemi, Nadia
- Rawashdeh, Rifaat
- Eyaid, Wafaa
- Al‐Hassnan, Zuhair N.
- Rahbeeni, Zuhair
- Alswaid, Abdulrahman
- Hadid, Adnan
- Qari, Alya
- Mohammed, Dia A.
- El Khashab, Heba Y.
- Alfadhel, Majid
- Abanemai, Mohammad
- Sunbul, Rawda
- Al Tala, Saeed
- Alkhalifi, Salwa
- Alkharfi, Turki
- Abouelhoda, Mohamed
- Monies, Dorota
- Al Tassan, Nada
- AlDubayan, Saud H.
- Kurdi, Wesam
- Al‐Owain, Mohammed
- Dasouki, Majed J.
- Kentab, Amal Y.
- Atyani, Suha
- Makhseed, Nawal
- Faqeih, Eissa
- Shaheen, Ranad
- Alkuraya, Fowzan S.
2019
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American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1142-1147
2016
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American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.715-721
- Alrakaf, Laila
- Al‐Owain, Mohammed A.
- Busehail, Maryam
- Alotaibi, Maha A.
- Monies, Dorota
- Aldhalaan, Hesham M.
- Alhashem, Amal
- Al‐Hassnan, Zuhair N.
- Rahbeeni, Zuhair A.
- Murshedi, Fathiya Al
- Ani, Nadia Al
- Al‐Maawali, Almundher
- Ibrahim, Niema A.
- Abdulwahab, Firdous M.
- Alsagob, Maysoon
- Hashem, Mais O.
- Ramadan, Wafaa
- Abouelhoda, Mohamed
- Meyer, Brian F.
- Kaya, Namik
- Maddirevula, Sateesh
- Alkuraya, Fowzan S.
2018
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2850-2857
2018
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Genome Biology, 2016-11, Vol.17 (1), p.242-242, Article 242
- Shaheen, Ranad
- Szymanska, Katarzyna
- Basu, Basudha
- Patel, Nisha
- Ewida, Nour
- Faqeih, Eissa
- Al Hashem, Amal
- Derar, Nada
- Alsharif, Hadeel
- Aldahmesh, Mohammed A
- Alazami, Anas M
- Hashem, Mais
- Ibrahim, Niema
- Abdulwahab, Firdous M
- Sonbul, Rawda
- Alkuraya, Hisham
- Alnemer, Maha
- Al Tala, Saeed
- Al-Husain, Muneera
- Morsy, Heba
- Seidahmed, Mohammed Zain
- Meriki, Neama
- Al-Owain, Mohammed
- AlShahwan, Saad
- Tabarki, Brahim
- Salih, Mustafa A
- Faquih, Tariq
- El-Kalioby, Mohamed
- Ueffing, Marius
- Boldt, Karsten
- Logan, Clare V
- Parry, David A
- Al Tassan, Nada
- Monies, Dorota
- Megarbane, Andre
- Abouelhoda, Mohamed
- Halees, Anason
- Johnson, Colin A
- Alkuraya, Fowzan S
2016
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Genome research, 2013-02, Vol.23 (2), p.236
- Abu-Safieh, Leen
- Alrashed, May
- Anazi, Shamsa
- Alkuraya, Hisham
- Khan, Arif O
- Al-Owain, Mohammed
- Al-Zahrani, Jawahir
- Al-Abdi, Lama
- Hashem, Mais
- Al-Tarimi, Salwa
- Sebai, Mohammed-Adeeb
- Shamia, Ahmed
- Ray-Zack, Mohamed D
- Nassan, Malik
- Al-Hassnan, Zuhair N
- Rahbeeni, Zuhair
- Waheeb, Saad
- Alkharashi, Abdullah
- Abboud, Emad
- Al-Hazzaa, Selwa A F
- Alkuraya, Fowzan S
2013
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Genetics in medicine, 2020-06, Vol.22 (6), p.1051-1060
- Shamseldin, Hanan E.
- Shaheen, Ranad
- Ewida, Nour
- Bubshait, Dalal K.
- Alkuraya, Hisham
- Almardawi, Elham
- Howaidi, Ali
- Sabr, Yasser
- Abdalla, Ebtesam M.
- Alfaifi, Abdullah Y.
- Alghamdi, Jameel Mohammed
- Alsagheir, Afaf
- Alfares, Ahmed
- Morsy, Heba
- Hussein, Maged H.
- Al–Muhaizea, Mohammad A.
- Shagrani, Mohammad
- Al Sabban, Essam
- Salih, Mustafa A.
- Meriki, Neama
- Khan, Rubina
- Almugbel, Maisoon
- Qari, Alya
- Tulba, Maha
- Mahnashi, Mohammed
- Alhazmi, Khalid
- Alsalamah, Abrar K.
- Nowilaty, Sawsan R.
- Alhashem, Amal
- Hashem, Mais
- Abdulwahab, Firdous
- Ibrahim, Niema
- Alshidi, Tarfa
- AlObeid, Eman
- Alenazi, Mona M.
- Alzaidan, Hamad
- Rahbeeni, Zuhair
- Al–Owain, Mohammed
- Sogaty, Sameera
- Seidahmed, Mohammed Zain
- Alkuraya, Fowzan S.
2020
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Genetics in medicine, 2020-06, Vol.22 (6), p.1051-1060
- Shamseldin, Hanan E
- Shaheen, Ranad
- Ewida, Nour
- Bubshait, Dalal K
- Alkuraya, Hisham
- Almardawi, Elham
- Howaidi, Ali
- Sabr, Yasser
- Abdalla, Ebtesam M
- Alfaifi, Abdullah Y
- Alghamdi, Jameel Mohammed
- Alsagheir, Afaf
- Alfares, Ahmed
- Morsy, Heba
- Hussein, Maged H
- Al-Muhaizea, Mohammad A
- Shagrani, Mohammad
- Al Sabban, Essam
- Salih, Mustafa A
- Meriki, Neama
- Khan, Rubina
- Almugbel, Maisoon
- Qari, Alya
- Tulba, Maha
- Mahnashi, Mohammed
- Alhazmi, Khalid
- Alsalamah, Abrar K
- Nowilaty, Sawsan R
- Alhashem, Amal
- Hashem, Mais
- Abdulwahab, Firdous
- Ibrahim, Niema
- Alshidi, Tarfa
- AlObeid, Eman
- Alenazi, Mona M
- Alzaidan, Hamad
- Rahbeeni, Zuhair
- Al-Owain, Mohammed
- Sogaty, Sameera
- Seidahmed, Mohammed Zain
- Alkuraya, Fowzan S
2020
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Nature genetics, 2011-12, Vol.43 (12), p.1186-1188
2011
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American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1565-1570
2014
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Pulmonary circulation, 2021-07, Vol.11 (3), p.1-8
2021
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Pediatric neurology, 2013-10, Vol.49 (4), p.232-236
2013
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Genetics in medicine, 2017-10, Vol.19 (10), p.1144-1150
2017
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Drug Discoveries & Therapeutics, 2016, Vol.10(4), pp.223-225
2016
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Nature medicine, 2023-03, Vol.29 (3), p.679-688
- Greene, Daniel
- Pirri, Daniela
- Frudd, Karen
- Sackey, Ege
- Al-Owain, Mohammed
- Giese, Arnaud P J
- Ramzan, Khushnooda
- Riaz, Sehar
- Yamanaka, Itaru
- Boeckx, Nele
- Thys, Chantal
- Gelb, Bruce D
- Brennan, Paul
- Hartill, Verity
- Harvengt, Julie
- Kosho, Tomoki
- Mansour, Sahar
- Masuno, Mitsuo
- Ohata, Takako
- Stewart, Helen
- Taibah, Khalid
- Turner, Claire L S
- Imtiaz, Faiqa
- Riazuddin, Saima
- Morisaki, Takayuki
- Ostergaard, Pia
- Loeys, Bart L
- Morisaki, Hiroko
- Ahmed, Zubair M
- Birdsey, Graeme M
- Freson, Kathleen
- Mumford, Andrew
- Turro, Ernest
2023
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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 human genetics, 2024-05, Vol.111 (5), p.996-996
- Martin, Carol-Anne
- Sarlós, Kata
- Logan, Clare V.
- Thakur, Roshan Singh
- Parry, David A.
- Bizard, Anna H.
- Leitch, Andrea
- Cleal, Louise
- Ali, Nadia Shaukat
- Al-Owain, Mohammed A.
- Allen, William
- Altmüller, Janine
- Aza-Carmona, Miriam
- Barakat, Bushra A.Y.
- Barraza-García, Jimena
- Begtrup, Amber
- Bogliolo, Massimo
- Cho, Megan T.
- Cruz-Rojo, Jaime
- Mundi Dhahrabi, Hassan Ali
- Elcioglu, Nursel H.
- GOSgene
- Gorman, Gráinne S.
- Jobling, Rebekah
- Kesterton, Ian
- Kishita, Yoshihito
- Kohda, Masakazu
- Le Quesne Stabej, Polona
- Malallah, Asam Jassim
- Nürnberg, Peter
- Ohtake, Akira
- Okazaki, Yasushi
- Pujol, Roser
- Ramirez, Maria José
- Revah-Politi, Anya
- Shimura, Masaru
- Stevens, Paul
- Taylor, Robert W.
- Turner, Lesley
- Williams, Hywel
- Wilson, Carolyn
- Yigit, Gökhan
- Zahavich, Laura
- Alkuraya, Fowzan S.
- Surralles, Jordi
- Iglesias, Alejandro
- Murayama, Kei
- Wollnik, Bernd
- Dattani, Mehul
- Heath, Karen E.
- Hickson, Ian D.
- Jackson, Andrew P.
2024
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Nature genetics, 2013-01, Vol.45 (1), p.83-87
- Cullup, Thomas
- Kho, Ay Lin
- Dionisi-Vici, Carlo
- Brandmeier, Birgit
- Smith, Frances
- Urry, Zoe
- Simpson, Michael A
- Yau, Shu
- Bertini, Enrico
- McClelland, Verity
- Al-Owain, Mohammed
- Koelker, Stefan
- Koerner, Christian
- Hoffmann, Georg F
- Wijburg, Frits A
- ten Hoedt, Amber E
- Rogers, R Curtis
- Manchester, David
- Miyata, Rie
- Hayashi, Masaharu
- Said, Elizabeth
- Soler, Doriette
- Kroisel, Peter M
- Windpassinger, Christian
- Filloux, Francis M
- Al-Kaabi, Salwa
- Hertecant, Jozef
- Del Campo, Miguel
- Buk, Stefan
- Bodi, Istvan
- Goebel, Hans-Hilmar
- Sewry, Caroline A
- Abbs, Stephen
- Mohammed, Shehla
- Josifova, Dragana
- Gautel, Mathias
- Jungbluth, Heinz
2013
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