Хайлтын үр дүнгүүд - Seidahmed, Mohammed Z

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

Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах

Epidemiology of neural tube defects -н 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.

Бүрэн текст авах Бүрэн текст авах

Genetic, chromosomal, and syndromic causes of neural tube defects -н 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.

Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах