نتائج البحث - Seidahmed, Mohammed Z

Classification, clinical features, and genetics of neural tube defects حسب Salih, Mustafa A., Murshid, Waleed R., Seidahmed, Mohammed Z.

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Epidemiology, prenatal management, and prevention of neural tube defects حسب Salih, Mustafa A., Murshid, Waleed R., Seidahmed, Mohammed Z.

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GABA transaminase deficiency. Case report and literature review حسب Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar

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Sirenomelia and severe caudal regression syndrome حسب Seidahmed, Mohammed Z., Abdelbasit, Omer B., Alhussein, Khalid A., Miqdad, Abeer M., Khalil, Mohammed I., Salih, Mustafa A.

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Epidemiology of neural tube defects حسب 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.

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Genetic, chromosomal, and syndromic causes of neural tube defects حسب 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.

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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) حسب 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

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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 حسب 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

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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes حسب 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

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome حسب 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.

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Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2 حسب 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

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Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome حسب 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, Robert J., Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.

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Efficient identification of novel mutations in patients with limb girdle muscular dystrophy حسب 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.

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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia حسب Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

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