Resultados de búsqueda - Al-Owain, Mohammed

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? por Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

Enlace del recurso Enlace del recurso Enlace del recurso

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? por Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

Enlace del recurso Enlace del recurso

A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype por Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.

Enlace del recurso Enlace del recurso

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report por Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak

Enlace del recurso Enlace del recurso Enlace del recurso

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids por Yagita, Yuichi, Shinohara, Kyoko, Abe, Yuichi, Nakagawa, Keiko, Al-Owain, Mohammed, Alkuraya, Fowzan S., Fujiki, Yukio

Enlace del recurso Enlace del recurso Enlace del recurso

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss por Ramzan, Khushnooda, Bin-Abbas, Bassam, Al-Jomaa, Lolwa, Allam, Rabab, Al-Owain, Mohammed, Imtiaz, Faiqa

Enlace del recurso Enlace del recurso Enlace del recurso

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations por Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Asiri, Abdulaziz, Al Tuwaijri, Abeer, Alhamoudi, Khaloud, Alyafee, Yusra, Al-Owain, Mohammed

Enlace del recurso Enlace del recurso Enlace del recurso

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss por Ramzan, Khushnooda, Al-Numair, Nouf S., Al-Ageel, Sarah, Elbaik, Lina, Sakati, Nadia, Al-Hazzaa, Selwa A. F., Al-Owain, Mohammed, Imtiaz, Faiqa

Enlace del recurso Enlace del recurso Enlace del recurso

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population por Aldalaan, Abdullah M., Ramzan, Khushnooda, Saleemi, Sarfraz A., Weheba, Ihab, Alquait, Laila, Abdelsayed, Abeer, Alzubi, Fatima, Zaytoun, Hamdeia, Alharbi, Nadeen, Al-Owain, Mohammed, Imtiaz, Faiqa

Enlace del recurso Enlace del recurso Enlace del recurso

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis por Imtiaz, Faiqa, Taibah, Khalid, Bin-Khamis, Ghada, Kennedy, Shelley, Hemidan, Amal, Al-Qahtani, Faisal, Tabbara, Khalid, Mubarak, Bashayer Al, Ramzan, Khushnooda, Meyer, Brian F., Al-Owain, Mohammed

Enlace del recurso Enlace del recurso

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy por Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed

Enlace del recurso Enlace del recurso Enlace del recurso

Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay por Hasan, Sonia, Balobaid, Ameera, Grottesi, Alessandro, Dabbagh, Omar, Cenciarini, Marta, Rawashdeh, Rifaat, Al-Sagheir, Afaf, Bove, Cecilia, Macchioni, Lara, Pessia, Mauro, Al-Owain, Mohammed, D’Adamo, Maria Cristina

Enlace del recurso Enlace del recurso Enlace del recurso

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds por Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D., Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed HE

Enlace del recurso Enlace del recurso Enlace del recurso

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia por Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen

Enlace del recurso Enlace del recurso Enlace del recurso

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population por Imtiaz, Faiqa, Taibah, Khalid, Ramzan, Khushnooda, Bin-Khamis, Ghada, Kennedy, Shelley, Al-Mubarak, Bashayer, Trabzuni, Daniah, Allam, Rabab, Al-Mostafa, Abeer, Sogaty, Sameera, Al-Shaikh, Abdulmoneem H, Bamukhayyar, Saeed S, Meyer, Brian F, Al-Owain, Mohammed

Enlace del recurso Enlace del recurso Enlace del recurso

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh

Enlace del recurso Enlace del recurso Enlace del recurso

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly por Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.

Enlace del recurso Enlace del recurso Enlace del recurso

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly por Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.

Enlace del recurso Enlace del recurso Enlace del recurso

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia por Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen

Enlace del recurso Enlace del recurso Enlace del recurso

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans por Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.

Enlace del recurso Enlace del recurso Enlace del recurso