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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
Seidahmed, Mohammed Z., Hamad, Muddathir H., AlBakheet, Albandary, Elmalik, Salah A., AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M., Colak, Dilek, Salih, Mustafa A., Kaya, Namik
Published in BMC neurology (25.05.2020)
Published in BMC neurology (25.05.2020)
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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chantal, Kurdi, Wesam, Al-Rasheed, Shatha, Alkuraya, Fowzan S
Published in European journal of human genetics : EJHG (01.07.2013)
Published in European journal of human genetics : EJHG (01.07.2013)
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Molecular characterization of Joubert syndrome in Saudi Arabia
Alazami, Anas M., Alshammari, Muneera J., Salih, Mustafa A., Alzahrani, Fatema, Hijazi, Hadia, Seidahmed, Mohammed Z., Abu Safieh, Leen, Aldosary, Mazhor, Khan, Arif O., Alkuraya, Fowzan S.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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GABA transaminase deficiency. Case report and literature review
Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar
Published in Clinical case reports (01.03.2021)
Published in Clinical case reports (01.03.2021)
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Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
Aboheimed, Ghada I., AlRasheed, Maha M., Almudimeegh, Sultan, Peña-Guerra, Karla A., Cardona-Londoño, Kelly J., Salih, Mustafa A., Seidahmed, Mohammed Z., Al-Mohanna, Futwan, Colak, Dilek, Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.
Published in The Journal of biological chemistry (01.07.2022)
Published in The Journal of biological chemistry (01.07.2022)
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih, Mustafa A, Seidahmed, Mohammed Z, El Khashab, Heba Y, Hamad, Muddathir H A, Bosley, Thomas M, Burn, Sabrina, Myers, Angela, Landsverk, Megan L, Crotwell, Patricia L, Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2015)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2015)
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Epidemiology, prenatal management, and prevention of neural tube defects
Salih, Mustafa A, Murshid, Waleed R, Seidahmed, Mohammed Z
Published in Saudi medical journal (01.12.2014)
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Published in Saudi medical journal (01.12.2014)
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Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa AM, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Published in BMC research notes (13.12.2011)
Published in BMC research notes (13.12.2011)
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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
Shaheen, Ranad, Faqeih, Eissa, Seidahmed, Mohammed Z., Sunker, Asma, Alali, Faten Ezzat, Khadijah, AlQahtani, Alkuraya, Fowzan S.
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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Classification, clinical features, and genetics of neural tube defects
Salih, Mustafa A, Murshid, Waleed R, Seidahmed, Mohammed Z
Published in Saudi medical journal (01.12.2014)
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Published in Saudi medical journal (01.12.2014)
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Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies
Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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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)
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Correction: Arterial tortuosity syndrome: 40 new families and literature review
Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, Callewaert, Bert
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Epidemiology of neural tube defects
Seidahmed, Mohammed Z, Abdelbasit, Omar B, Shaheed, Meeralebbae M, Alhussein, Khalid A, Miqdad, Abeer M, Khalil, Mohamed I, Al-Enazy, Naif M, Salih, Mustafa A
Published in Saudi medical journal (01.12.2014)
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Published in Saudi medical journal (01.12.2014)
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Sirenomelia and severe caudal regression syndrome
Seidahmed, Mohammed Z, Abdelbasit, Omer B, Alhussein, Khalid A, Miqdad, Abeer M, Khalil, Mohammed I, Salih, Mustafa A
Published in Saudi medical journal (01.12.2014)
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Published in Saudi medical journal (01.12.2014)
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Genetic, chromosomal, and syndromic causes of neural tube defects
Seidahmed, Mohammed Z, Abdelbasit, Omer B, Shaheed, Meeralebbae M, Alhussein, Khalid A, Miqdad, Abeer M, Samadi, Abdulmohsen S, Khalil, Mohammed I, Al-Mardawi, Elham, Salih, Mustafa A
Published in Saudi medical journal (01.12.2014)
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Published in Saudi medical journal (01.12.2014)
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Neurologic injury in isolated sulfite oxidase deficiency
Bosley, Thomas M, Alorainy, Ibrahim A, Oystreck, Darren T, Hellani, Ali M, Seidahmed, Mohammed Z, Osman, Mohamed El Faki, Sabry, Mohamed A, Rashed, Mohamed S, Al-Yamani, Eiman A, Abu-Amero, Khaled K, Salih, Mustafa A
Published in Canadian journal of neurological sciences (01.01.2014)
Published in Canadian journal of neurological sciences (01.01.2014)
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Infants of diabetic mothers. A cohort study
Lasheen, Abeer E, Abdelbasit, Omer B, Seidahmed, Mohammed Z, Hussein, Khalid A, Miqdad, Abeer M, Al Zahrani, Mohammed H, Farid, Gehan M, Badr, Haitham A
Published in Saudi medical journal (01.06.2014)
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Published in Saudi medical journal (01.06.2014)
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Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
Boyden, Steven E., Salih, Mustafa A., Duncan, Anna R., White, Alexander J., Estrella, Elicia A., Burgess, Stephanie L., Seidahmed, Mohammed Z., Al-Jarallah, Abdullah S., Alkhalidi, Hisham M. S., Al-Maneea, Waleed M., Bennett, Richard R., Alshemmari, Salem H., Kunkel, Louis M., Kang, Peter B.
Published in Neurogenetics (01.10.2010)
Published in Neurogenetics (01.10.2010)
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (09.07.2015)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (09.07.2015)
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