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American journal of human genetics, 2017-10, Vol.101 (4), p.603-608
2017
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Genetics in medicine, 2019-05, Vol.21 (5), p.1164-1172
2019
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American journal of human genetics, 2019-11, Vol.105 (5), p.1016-1022
2019
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Nature communications, 2020-05, Vol.11 (1), p.2510-2510, Article 2510
2020
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Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145
- Maddirevula, Sateesh
- Kuwahara, Hiroyuki
- Ewida, Nour
- Shamseldin, Hanan E.
- Patel, Nisha
- Alzahrani, Fatema
- AlSheddi, Tarfa
- AlObeid, Eman
- Alenazi, Mona
- Alsaif, Hessa S.
- Alqahtani, Maha
- AlAli, Maha
- Al Ali, Hatoon
- Helaby, Rana
- Ibrahim, Niema
- Abdulwahab, Firdous
- Hashem, Mais
- Hanna, Nadine
- Monies, Dorota
- Derar, Nada
- Alsagheir, Afaf
- Alhashem, Amal
- Alsaleem, Badr
- Alhebbi, Hamoud
- Wali, Sami
- Umarov, Ramzan
- Gao, Xin
- Alkuraya, Fowzan S.
2020
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Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945
- Nahorski, Michael S
- Maddirevula, Sateesh
- Ishimura, Ryosuke
- Alsahli, Saud
- Brady, Angela F
- Begemann, Anaïs
- Mizushima, Tsunehiro
- Guzmán-Vega, Francisco J
- Obata, Miki
- Ichimura, Yoshinobu
- Alsaif, Hessa S
- Anazi, Shams
- Ibrahim, Niema
- Abdulwahab, Firdous
- Hashem, Mais
- Monies, Dorota
- Abouelhoda, Mohamed
- Meyer, Brian F
- Alfadhel, Majid
- Eyaid, Wafa
- Zweier, Markus
- Steindl, Katharina
- Rauch, Anita
- Arold, Stefan T
- Woods, C Geoffrey
- Komatsu, Masaaki
- Alkuraya, Fowzan S
2018
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Nature genetics, 2017-04, Vol.49 (4), p.537-549
- Reynolds, John J
- Bicknell, Louise S
- Carroll, Paula
- Higgs, Martin R
- Shaheen, Ranad
- Murray, Jennie E
- Papadopoulos, Dimitrios K
- Leitch, Andrea
- Murina, Olga
- Tarnauskaitė, Žygimantė
- Wessel, Sarah R
- Zlatanou, Anastasia
- Vernet, Audrey
- von Kriegsheim, Alex
- Mottram, Rachel M A
- Logan, Clare V
- Bye, Hannah
- Li, Yun
- Brean, Alexander
- Maddirevula, Sateesh
- Challis, Rachel C
- Skouloudaki, Kassiani
- Almoisheer, Agaadir
- Alsaif, Hessa S
- Amar, Ariella
- Prescott, Natalie J
- Bober, Michael B
- Duker, Angela
- Faqeih, Eissa
- Seidahmed, Mohammed Zain
- Al Tala, Saeed
- Alswaid, Abdulrahman
- Ahmed, Saleem
- Al-Aama, Jumana Yousuf
- Altmüller, Janine
- Al Balwi, Mohammed
- Brady, Angela F
- Chessa, Luciana
- Cox, Helen
- Fischetto, Rita
- Heller, Raoul
- Henderson, Bertram D
- Hobson, Emma
- Nürnberg, Peter
- Percin, E Ferda
- Peron, Angela
- Spaccini, Luigina
- Quigley, Alan J
- Thakur, Seema
- Wise, Carol A
- Yoon, Grace
- Alnemer, Maha
- Tomancak, Pavel
- Yigit, Gökhan
- Taylor, A Malcolm R
- Reijns, Martin A M
- Simpson, Michael A
- Cortez, David
- Alkuraya, Fowzan S
- Mathew, Christopher G
- Jackson, Andrew P
- Stewart, Grant S
2017
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Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2388-2397
- Neuray, Caroline
- Maroofian, Reza
- Scala, Marcello
- Sultan, Tipu
- Pai, Gurpur S
- Mojarrad, Majid
- Khashab, Heba El
- deHoll, Leigh
- Yue, Wyatt
- Alsaif, Hessa S
- Zanetti, Maria N
- Bello, Oscar
- Person, Richard
- Eslahi, Atieh
- Khazaei, Zaynab
- Feizabadi, Masoumeh H
- Efthymiou, Stephanie
- El-Bassyouni, Hala T
- Soliman, Doaa R
- Tekes, Selahattin
- Ozer, Leyla
- Baltaci, Volkan
- Khan, Suliman
- Beetz, Christian
- Amr, Khalda S
- Salpietro, Vincenzo
- Jamshidi, Yalda
- Alkuraya, Fowzan S
- Houlden, Henry
2020
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Brain (London, England : 1878), 2022-04, Vol.145 (3), p.909-924
- Marafi, Dana
- Fatih, Jawid M
- Kaiyrzhanov, Rauan
- Ferla, Matteo P
- Gijavanekar, Charul
- Al-Maraghi, Aljazi
- Liu, Ning
- Sites, Emily
- Alsaif, Hessa S
- Al-Owain, Mohammad
- Zakkariah, Mohamed
- El-Anany, Ehab
- Guliyeva, Ulviyya
- Guliyeva, Sughra
- Gaba, Colette
- Haseeb, Ateeq
- Alhashem, Amal M
- Danish, Enam
- Karageorgou, Vasiliki
- Beetz, Christian
- Subhi, Alaa A
- Mullegama, Sureni V
- Torti, Erin
- Sebastin, Monisha
- Breilyn, Margo Sheck
- Duberstein, Susan
- Abdel-Hamid, Mohamed S
- Mitani, Tadahiro
- Du, Haowei
- Rosenfeld, Jill A
- Jhangiani, Shalini N
- Coban Akdemir, Zeynep
- Gibbs, Richard A
- Taylor, Jenny C
- Fakhro, Khalid A
- Hunter, Jill V
- Pehlivan, Davut
- Zaki, Maha S
- Gleeson, Joseph G
- Maroofian, Reza
- Houlden, Henry
- Posey, Jennifer E
- Sutton, V Reid
- Alkuraya, Fowzan S
- Elsea, Sarah H
- Lupski, James R
2022
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eLife, 2020-12, Vol.9
- El Hayek, Lauretta
- Tuncay, Islam Oguz
- Nijem, Nadine
- Russell, Jamie
- Ludwig, Sara
- Kaur, Kiran
- Li, Xiaohong
- Anderton, Priscilla
- Tang, Miao
- Gerard, Amanda
- Heinze, Anja
- Zacher, Pia
- Alsaif, Hessa S
- Rad, Aboulfazl
- Hassanpour, Kazem
- Abbaszadegan, Mohammad Reza
- Washington, Camerun
- DuPont, Barbara R
- Louie, Raymond J
- Couse, Madeline
- Faden, Maha
- Rogers, R Curtis
- Abou Jamra, Rami
- Elias, Ellen R
- Maroofian, Reza
- Houlden, Henry
- Lehman, Anna
- Beutler, Bruce
- Chahrour, Maria H
2020
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Genome medicine, 2021-10, Vol.13 (1), p.161-161, Article 161
2021
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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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American journal of human genetics, 2021-07, Vol.108 (7), p.1318-1329
- Wallmeier, Julia
- Bracht, Diana
- Alsaif, Hessa S.
- Dougherty, Gerard W.
- Olbrich, Heike
- Cindric, Sandra
- Dzietko, Mark
- Heyer, Christoph
- Teig, Norbert
- Thiels, Charlotte
- Faqeih, Eissa
- Al-Hashim, Aqeela
- Khan, Sameena
- Mogarri, Ibrahim
- Almannai, Mohammed
- Al Otaibi, Wadha
- Alkuraya, Fowzan S.
- Koerner-Rettberg, Cordula
- Omran, Heymut
2021
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Human genetics, 2023-03, Vol.142 (3), p.399-405
2023
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Human genetics, 2019-09, Vol.138 (8-9), p.1043-1049
2019
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Genetics in medicine, 2019-03, Vol.21 (3), p.736-742
- Maddirevula, Sateesh
- Alzahrani, Fatema
- Al-Owain, Mohammed
- Al Muhaizea, Mohammad A
- Kayyali, Husam R
- AlHashem, Amal
- Rahbeeni, Zuhair
- Al-Otaibi, Maha
- Alzaidan, Hamad I
- Balobaid, Ameera
- El Khashab, Heba Y
- Bubshait, Dalal K
- Faden, Maha
- Yamani, Suad Al
- Dabbagh, Omar
- Al-Mureikhi, Mariam
- Jasser, Abdulla Al
- Alsaif, Hessa S
- Alluhaydan, Iram
- Seidahmed, Mohammed Zain
- Alabbasi, Bashair Hamza
- Almogarri, Ibrahim
- Kurdi, Wesam
- Akleh, Hana
- Qari, Alya
- Al Tala, Saeed M
- Alhomaidi, Suzan
- Kentab, Amal Y
- Salih, Mustafa A
- Chedrawi, Aziza
- Alameer, Seham
- Tabarki, Brahim
- Shamseldin, Hanan E
- Patel, Nisha
- Ibrahim, Niema
- Abdulwahab, Firdous
- Samira, Menasria
- Goljan, Ewa
- Abouelhoda, Mohamed
- Meyer, Brian F
- Hashem, Mais
- Shaheen, Ranad
- AlShahwan, Saad
- Alfadhel, Majid
- Ben-Omran, Tawfeg
- Al-Qattan, Mohammad M
- Monies, Dorota
- Alkuraya, Fowzan S
2019
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European journal of medical genetics, 2020-03, Vol.63 (3), p.103763, Article 103763
2020
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The Journal of experimental medicine, 2020-03, Vol.217 (3)
- Chen, Yin-Huai
- Grigelioniene, Giedre
- Newton, Phillip T
- Gullander, Jacob
- Elfving, Maria
- Hammarsjö, Anna
- Batkovskyte, Dominyka
- Alsaif, Hessa S
- Kurdi, Wesam I Y
- Abdulwahab, Firdous
- Shanmugasundaram, Veerabahu
- Devey, Luke
- Bacrot, Séverine
- Brodszki, Jana
- Huber, Celine
- Hamel, Ben
- Gisselsson, David
- Papadogiannakis, Nikos
- Jedrycha, Katarina
- Gürtl-Lackner, Barbara
- Chagin, Andrei S
- Nishimura, Gen
- Aschenbrenner, Dominik
- Alkuraya, Fowzan S
- Laurence, Arian
- Cormier-Daire, Valérie
- Uhlig, Holm H
2020
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Genetics in medicine, 2021-11, Vol.23 (11), p.2213-2218
2021
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American journal of human genetics, 2022-10, Vol.109 (10), p.1867-1884
- Choufani, Sanaa
- McNiven, Vanda
- Cytrynbaum, Cheryl
- Jangjoo, Maryam
- Adam, Margaret P.
- Bjornsson, Hans T.
- Harris, Jacqueline
- Dyment, David A.
- Graham, Gail E.
- Nezarati, Marjan M.
- Aul, Ritu B.
- Castiglioni, Claudia
- Breckpot, Jeroen
- Devriendt, Koen
- Stewart, Helen
- Banos-Pinero, Benito
- Mehta, Sarju
- Sandford, Richard
- Dunn, Carolyn
- Mathevet, Remi
- van Maldergem, Lionel
- Piard, Juliette
- Brischoux-Boucher, Elise
- Vitobello, Antonio
- Faivre, Laurence
- Bournez, Marie
- Tran-Mau, Frederic
- Maystadt, Isabelle
- Fernández-Jaén, Alberto
- Alvarez, Sara
- García-Prieto, Irene Díez
- Alkuraya, Fowzan S.
- Alsaif, Hessa S.
- Rahbeeni, Zuhair
- El-Akouri, Karen
- Al-Mureikhi, Mariam
- Spillmann, Rebecca C.
- Shashi, Vandana
- Sanchez-Lara, Pedro A.
- Graham, John M.
- Roberts, Amy
- Chorin, Odelia
- Evrony, Gilad D.
- Kraatari-Tiri, Minna
- Dudding-Byth, Tracy
- Richardson, Anamaria
- Hunt, David
- Hamilton, Laura
- Dyack, Sarah
- Mendelsohn, Bryce A.
- Rodríguez, Nicolás
- Sánchez-Martínez, Rosario
- Tenorio-Castaño, Jair
- Nevado, Julián
- Lapunzina, Pablo
- Tirado, Pilar
- Carminho Amaro Rodrigues, Maria-Teresa
- Quteineh, Lina
- Innes, A. Micheil
- Kline, Antonie D.
- Au, P.Y. Billie
- Weksberg, Rosanna
2022
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Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725
- Dworschak, Gabriel C
- Punetha, Jaya
- Kalanithy, Jeshurun C
- Mingardo, Enrico
- Erdem, Haktan B
- Akdemir, Zeynep C
- Karaca, Ender
- Mitani, Tadahiro
- Marafi, Dana
- Fatih, Jawid M
- Jhangiani, Shalini N
- Hunter, Jill V
- Dakal, Tikam Chand
- Dhabhai, Bhanupriya
- Dabbagh, Omar
- Alsaif, Hessa S
- Alkuraya, Fowzan S
- Maroofian, Reza
- Houlden, Henry
- Efthymiou, Stephanie
- Dominik, Natalia
- Salpietro, Vincenzo
- Sultan, Tipu
- Haider, Shahzad
- Bibi, Farah
- Thiele, Holger
- Hoefele, Julia
- Riedhammer, Korbinian M
- Wagner, Matias
- Guella, Ilaria
- Demos, Michelle
- Keren, Boris
- Buratti, Julien
- Charles, Perrine
- Nava, Caroline
- Héron, Delphine
- Heide, Solveig
- Valkanas, Elise
- Waddell, Leigh B
- Jones, Kristi J
- Oates, Emily C
- Cooper, Sandra T
- MacArthur, Daniel
- Syrbe, Steffen
- Ziegler, Andreas
- Platzer, Konrad
- Okur, Volkan
- Chung, Wendy K
- O'Shea, Sarah A
- Alcalay, Roy
- Fahn, Stanley
- Mark, Paul R
- Guerrini, Renzo
- Vetro, Annalisa
- Hudson, Beth
- Schnur, Rhonda E
- Hoganson, George E
- Burton, Jennifer E
- McEntagart, Meriel
- Lindenberg, Tobias
- Yilmaz, Öznur
- Odermatt, Benjamin
- Pehlivan, Davut
- Posey, Jennifer E
- Lupski, James R
- Reutter, Heiko
2021
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American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.604-607
2021
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Human genetics, 2021-09, Vol.140 (9), p.1395-1401
2021
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European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1509-1519
- Scala, Marcello
- Chua, Geok Lin
- Chin, Cheen Fei
- Alsaif, Hessa S
- Borovikov, Artem
- Riazuddin, Saima
- Riazuddin, Sheikh
- Chiara Manzini, M
- Severino, Mariasavina
- Kuk, Alvin
- Fan, Hao
- Jamshidi, Yalda
- Toosi, Mehran Beiraghi
- Doosti, Mohammad
- Karimiani, Ehsan Ghayoor
- Salpietro, Vincenzo
- Dadali, Elena
- Baydakova, Galina
- Konovalov, Fedor
- Lozier, Ekaterina
- O'Connor, Emer
- Sabr, Yasser
- Alfaifi, Abdullah
- Ashrafzadeh, Farah
- Striano, Pasquale
- Zara, Federico
- Alkuraya, Fowzan S
- Houlden, Henry
- Maroofian, Reza
- Silver, David L
2020
Link zum Volltext
Genetics in medicine, 2018-12, Vol.20 (12), p.1609-1616
- Maddirevula, Sateesh
- Alsahli, Saud
- Alhabeeb, Lamees
- Patel, Nisha
- Alzahrani, Fatema
- Shamseldin, Hanan E.
- Anazi, Shams
- Ewida, Nour
- Alsaif, Hessa S.
- Mohamed, Jawahir Y.
- Alazami, Anas M.
- Ibrahim, Niema
- Abdulwahab, Firdous
- Hashem, Mais
- Abouelhoda, Mohamed
- Monies, Dorota
- Al Tassan, Nada
- Alshammari, Muneera
- Alsagheir, Afaf
- Seidahmed, Mohammed Zain
- Sogati, Samira
- Aglan, Mona S
- Hamad, Muddathir H.
- Salih, Mustafa A.
- Hamed, Ahlam A.
- Alhashmi, Nadia
- Nabil, Amira
- Alfadli, Fatima
- Abdel-Salam, Ghada M.H.
- Alkuraya, Hisham
- Peitee, Winnie Ong
- Keng, W.T.
- Qasem, Abdullah
- Mushiba, Aziza M.
- Zaki, Maha S
- Fassad, Mahmoud R.
- Alfadhel, Majid
- Alexander, Saji
- Sabr, Yasser
- Temtamy, Samia
- Ekbote, Alka V
- Ismail, Samira
- Hosny, Gamal Ahmed
- Otaify, Ghada A.
- Amr, Khalda
- Al Tala, Saeed
- Khan, Arif O.
- Rizk, Tamer
- Alaqeel, Aida
- Alsiddiky, Abdulmonem
- Singh, Ankur
- Kapoor, Seema
- Alhashem, Amal
- Faqeih, Eissa
- Shaheen, Ranad
- Alkuraya, Fowzan S.
2018
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