The morbid genome of ciliopathies: an update
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.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
Get full text
Journal Article
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
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
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
Get full text
Journal Article
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
Kaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, Salpietro, Vincenzo, Neshatdoust, Maedeh, Kasiri, Mahboubeh, Yesil, Gozde, Uygur, Turkan, Pysden, Karen, Berry, Ian R., Alves, Cesar Augusto, Giacomotto, Jean, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.06.2024)
Published in Movement disorders (01.06.2024)
Get full text
Journal Article
Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
Lahoria, Rajat, Winder, Thomas L., Lui, Jie, Al‐Owain, Mohammed A., Milone, Margherita
Published in Muscle & nerve (01.10.2014)
Published in Muscle & nerve (01.10.2014)
Get full text
Journal Article
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings
Mushiba, Aziza M., FAQEIH, EISSA, Saleh, Mohammed A., Ramzan, Khushnooda, Imtiaz, Faiqa, Al‐Owain, Mohammed, Alhashem, Amal M., Alswaid, Abdulrahman
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
Get full text
Journal Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population
Ramzan, Khushnooda, Al‐Owain, Mohammed, Al‐Numair, Nouf S., Afzal, Sibtain, Al‐Ageel, Sarah, Al‐Amer, Sultan, Al‐Baik, Lina, Al‐Otaibi, Ghoson F., Hashem, Amal, Al‐Mashharawi, Eman, Basit, Sulman, Al‐Mazroea, Abdal H., Softah, Ameen, Sogaty, Sameera, Imtiaz, Faiqa
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2020)
Get full text
Journal Article
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype
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
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
Get full text
Journal Article
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia
Bakshi, Nasir A., Al‐Anzi, Talal, Mohamed, Said Y., Rahbeeni, Zuhair, AlSayed, Moeen, Al‐Owain, Mohammed, Sulaiman, Raashda A.
Published in American journal of medical genetics. Part A (01.03.2018)
Published in American journal of medical genetics. Part A (01.03.2018)
Get full text
Journal Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
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.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
Get full text
Journal Article
ADAT3-related intellectual disability: Further delineation of the phenotype
El-Hattab, Ayman W., Saleh, Mohammed A., Hashem, Amal, Al-Owain, Mohammed, Asmari, Ali Al, Rabei, Hala, Abdelraouf, Hanem, Hashem, Mais, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Faqeih, Eissa A., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.05.2016)
Published in American journal of medical genetics. Part A (01.05.2016)
Get full text
Journal Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
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.
Published in American journal of medical genetics. Part A (01.03.2018)
Published in American journal of medical genetics. Part A (01.03.2018)
Get full text
Journal Article
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin
Balobaid, Ameera, Ben‐Omran, Tawfeg, Ramzan, Khushnooda, Altassan, Ruqaiah, Almureikhi, Mariam, Musa, Sara, Al‐Hashmi, Nadia, Al‐Owain, Mohammed, Al‐Zaidan, Hamad, Al‐Hassnan, Zuhair, Imtiaz, Faiqa, Al‐Sayed, Moeenaldeen
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
Get full text
Journal Article
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
Faqeih, Eissa A., Al-Owain, Mohammed, Colak, Dilek, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Al-Saman, Abdulaziz, Albalawi, Fadwa, Al-Sarar, Dalia, Domiaty, Dalia, Daghestani, Maha, Kaya, Namik
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
Get full text
Journal Article
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population
Aldalaan, Abdullah M., Ramzan, Khushnooda, Saleemi, Sarfraz A., Weheba, Ihab, Alquait, Laila, Abdelsayed, Abeer, Alzubi, Fatima, Zaytoun, Hamdeia, Alharbi, Nadeen, Al-Owain, Mohammed, Imtiaz, Faiqa
Published in Pulmonary circulation (01.07.2021)
Published in Pulmonary circulation (01.07.2021)
Get full text
Journal Article
Depression in adult patients with biotin responsive basal ganglia disease
Bubshait, Dalal K., Rashid, Asif, Al-Owain, Mohammed A., Sulaiman, Raashda A.
Published in Drug Discoveries & Therapeutics (01.01.2016)
Published in Drug Discoveries & Therapeutics (01.01.2016)
Get full text
Journal Article
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
Alkuraya, Fowzan S, Al-Mayouf, Sulaiman M, Sunker, Asma, Abdwani, Reem, Abrawi, Safiya Al, Almurshedi, Fathiya, Alhashmi, Nadia, Al Sonbul, Abdullah, Sewairi, Wafaa, Qari, Aliya, Abdallah, Eiman, Al-Owain, Mohammed, Al Motywee, Saleh, Al-Rayes, Hanan, Hashem, Mais, Khalak, Hanif, Al-Jebali, Latifa
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
Get full text
Journal Article
Characterizing the morbid genome of ciliopathies
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
Published in Genome Biology (28.11.2016)
Published in Genome Biology (28.11.2016)
Get full text
Journal Article
Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy
Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed
Published in Intractable & Rare Diseases Research (2016)
Published in Intractable & Rare Diseases Research (2016)
Get full text
Journal Article