Resultados de procura - Seidahmed, Mohammed Z

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

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

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GABA transaminase deficiency. Case report and literature review por 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 por 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 por 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 por 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) por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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