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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Human genetics, 2016-07, Vol.135 (7), p.707-713
2016
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Genetics in medicine, 2020-12, Vol.22 (12), p.1967-1975
2020
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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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Annals of neurology, 2017-06, Vol.81 (6), p.890-897
- Shaheen, Ranad
- Sebai, Mohammed Adeeb
- Patel, Nisha
- Ewida, Nour
- Kurdi, Wesam
- Altweijri, Ikhlass
- Sogaty, Sameera
- Almardawi, Elham
- Seidahmed, Mohammed Zain
- Alnemri, Abdulrahman
- Madirevula, Sateesh
- Ibrahim, Niema
- Abdulwahab, Firdous
- Hashem, Mais
- Al‐Sheddi, Tarfa
- Alomar, Rana
- Alobeid, Eman
- Sallout, Bahauddin
- AlBaqawi, Badi
- AlAali, Wajeih
- Ajaji, Nouf
- Lesmana, Harry
- Hopkin, Robert J.
- Dupuis, Lucie
- Mendoza‐Londono, Roberto
- Al Rukban, Hadeel
- Yoon, Grace
- Faqeih, Eissa
- Alkuraya, Fowzan S.
2017
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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, 2018-04, Vol.20 (4), p.420-427
- Shamseldin, Hanan E
- Kurdi, Wesam
- Almusafri, Fatima
- Alnemer, Maha
- Alkaff, Alya
- Babay, Zeneb
- Alhashem, Amal
- Tulbah, Maha
- Alsahan, Nada
- Khan, Rubina
- Sallout, Bahauddin
- Al Mardawi, Elham
- Seidahmed, Mohamed Zain
- Meriki, Niema
- Alsaber, Yasser
- Qari, Alya
- Khalifa, Ola
- Eyaid, Wafaa
- Rahbeeni, Zuhair
- Kurdi, Ahmed
- Hashem, Mais
- Alshidi, Tarfa
- Al-Obeid, Eman
- Abdulwahab, Firdous
- Ibrahim, Niema
- Ewida, Nour
- El-Akouri, Karen
- Al Mulla, Mariam
- Ben-Omran, Tawfeg
- Pergande, Matthias
- Cirak, Sebahattin
- Al Tala, Saeed
- Shaheen, Ranad
- Faqeih, Eissa
- Alkuraya, Fowzan S
2018
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American journal of human genetics, 2018-10, Vol.103 (4), p.612-620
2018
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Genetics in medicine, 2019-03, Vol.21 (3), p.545-552
- Shaheen, Ranad
- Maddirevula, Sateesh
- Ewida, Nour
- Alsahli, Saud
- Abdel-Salam, Ghada M H
- Zaki, Maha S
- Tala, Saeed Al
- Alhashem, Amal
- Softah, Ameen
- Al-Owain, Mohammed
- Alazami, Anas M
- Abadel, Basma
- Patel, Nisha
- Al-Sheddi, Tarfa
- Alomar, Rana
- Alobeid, Eman
- Ibrahim, Niema
- Hashem, Mais
- Abdulwahab, Firdous
- Hamad, Muddathir
- Tabarki, Brahim
- Alwadei, Ali H
- Alhazzani, Fahad
- Bashiri, Fahad A
- Kentab, Amal
- Şahintürk, Serdar
- Sherr, Elliott
- Fregeau, Brieana
- Sogati, Samira
- Alshahwan, Saad Ali M
- Alkhalifi, Salwa
- Alhumaidi, Zainab
- Temtamy, Samia
- Aglan, Mona
- Otaify, Ghada
- Girisha, Katta M
- Tulbah, Maha
- Seidahmed, Mohammed Zain
- Salih, Mustafa A
- Abouelhoda, Mohamed
- Momin, Afaque A
- Saffar, Muna Al
- Partlow, Jennifer N
- Arold, Stefan T
- Faqeih, Eissa
- Walsh, Christopher
- Alkuraya, Fowzan S
2019
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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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Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079
- Shaheen, Ranad
- Alsahli, Saud
- Ewida, Nour
- Alzahrani, Fatema
- Shamseldin, Hanan E.
- Patel, Nisha
- Al Qahtani, Awad
- Alhebbi, Homoud
- Alhashem, Amal
- Al‐Sheddi, Tarfa
- Alomar, Rana
- Alobeid, Eman
- Abouelhoda, Mohamed
- Monies, Dorota
- Al‐Hussaini, Abdulrahman
- Alzouman, Muneerah A.
- Shagrani, Mohammad
- Faqeih, Eissa
- Alkuraya, Fowzan S.
2020
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3859-3865
2021
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Human genetics, 2022-02, Vol.141 (2), p.209-215
2022
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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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Human mutation, 2019-11, Vol.40 (11), p.2108-2120
- Shaheen, Ranad
- Mark, Paul
- Prevost, Christopher T.
- AlKindi, Adila
- Alhag, Ahmad
- Estwani, Fatima
- Al‐Sheddi, Tarfa
- Alobeid, Eman
- Alenazi, Mona M.
- Ewida, Nour
- Ibrahim, Niema
- Hashem, Mais
- Abdulwahab, Firdous
- Bryant, Emily M.
- Spinelli, Egidio
- Millichap, John
- Barnett, Sarah S.
- Kearney, Hutton M.
- Accogli, Andrea
- Scala, Marcello
- Capra, Valeria
- Nigro, Vincenzo
- Fu, Dragony
- Alkuraya, Fowzan S.
2019
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American journal of human genetics, 2019-04, Vol.104 (4), p.731-737
- Shaheen, Ranad
- Jiang, Nan
- Alzahrani, Fatema
- Ewida, Nour
- Al-Sheddi, Tarfa
- Alobeid, Eman
- Musaev, Damir
- Stanley, Valentina
- Hashem, Mais
- Ibrahim, Niema
- Abdulwahab, Firdous
- Alshenqiti, Abduljabbar
- Sonmez, Fatma Mujgan
- Saqati, Nadia
- Alzaidan, Hamad
- Al-Qattan, Mohammad M.
- Al-Mohanna, Futwan
- Gleeson, Joseph G.
- Alkuraya, Fowzan S.
2019
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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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Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia
2019
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Genetics in medicine, 2016-07, Vol.18 (7), p.686-695
- Shaheen, Ranad
- Patel, Nisha
- Shamseldin, Hanan
- Alzahrani, Fatema
- Al-Yamany, Ruah
- Al Moisheer, Agaadir
- Ewida, Nour
- Anazi, Shamsa
- Alnemer, Maha
- Elsheikh, Mohamed
- Alfaleh, Khaled
- Alshammari, Muneera
- Alhashem, Amal
- Alangari, Abdullah A.
- Salih, Mustafa A.
- Kircher, Martin
- Daza, Riza M.
- Ibrahim, Niema
- Wakil, Salma M.
- Alaqeel, Ahmed
- Altowaijri, Ikhlas
- Shendure, Jay
- Al-Habib, Amro
- Faqieh, Eissa
- Alkuraya, Fowzan S.
2016
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Genome medicine, 2021-10, Vol.13 (1), p.161-161, Article 161
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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Frontiers in genetics, 2020-12, Vol.11, p.580484-580484
- Maddirevula, Sateesh
- Shamseldin, Hanan E
- Sirr, Amy
- AlAbdi, Lama
- Lo, Russell S
- Ewida, Nour
- Al-Qahtani, Mashael
- Hashem, Mais
- Abdulwahab, Firdous
- Aboyousef, Omar
- Kaya, Namik
- Monies, Dorota
- Salem, May H
- Al Harbi, Naffaa
- Aldhalaan, Hesham M
- Alzaidan, Hamad
- Almanea, Hadeel M
- Alsalamah, Abrar K
- Al Mutairi, Fuad
- Ismail, Samira
- Abdel-Salam, Ghada M H
- Alhashem, Amal
- Asery, Ali
- Faqeih, Eissa
- AlQassmi, Amal
- Al-Hamoudi, Waleed
- Algoufi, Talal
- Shagrani, Mohammad
- Dudley, Aimée M
- 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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Human genetics, 2016-10, Vol.135 (10), p.1191-1197
2016
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Genetics in medicine, 2022-04, Vol.24 (4), p.966-966
- Shamseldin, Hanan E.
- Shaheen, Ranad
- Ewida, Nour
- Bubshait, Dalal K.
- Alkuraya, Hisham
- Almardawi, Elham
- Howaidi, Ali
- Sabr, Yasser
- Abdalla, Ebtesam M.
- Alfaifi, Abdullah Y.
- Mohammed Alghamdi, Jameel
- 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
- Zain Seidahmed, Mohammed
- Alkuraya, Fowzan S.
2022
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American journal of medical genetics. Part A, 2021, Vol.185 (12), p.3859-3865
2021
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