Resultats de la cerca - Seidahmed, Mohammed Z

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

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

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