Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Ibrahim A. Alorainy"'
Autor:
Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnor
Externí odkaz:
https://doaj.org/article/8db6644c11c4473ea480bba4e547fa50
Autor:
Mustafa A. Salih, Muddathir H. Hamad, Marco Savarese, Ibrahim A. Alorainy, Abdullah S. Al-Jarallah, Hisham Alkhalidi, Hanan AlQudairy, Anoud Albader, Amal Jahz Alotaibi, Maysoon Alsagob, Albandary Al-Bakheet, Dilek Colak, Bjarne Udd, Namik Kaya
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:757-764
Publikováno v:
Aljouf University Medical Journal. 7:29-36
Publikováno v:
Journal of Family and Community Medicine, Vol 17, Iss 2, Pp 96-102 (2010)
This paper is an attempt to produce a guide for improving the quality of Multiple Choice Questions (MCQs) used in undergraduate and postgraduate assessment. Multiple Choice Questions type is the most frequently used type of assessment worldwide. Well
Externí odkaz:
https://doaj.org/article/96aba1d307c94b859af269a3ba8a86a5
Publikováno v:
The American Journal of Case Reports
Patient: Female, 32 Final Diagnosis: Progressive multifocal leukoencephalopathy Symptoms: Progressive behavioral changes • seizures Medication: — Clinical Procedure: Management Specialty: Neurology Objective: Rare disease Background: Progressive
Autor:
Abdulmajeed AlDrees, Jumanah Al-Sufayan, Albandary Al-Bakheet, Salah A. Elmalik, Ibrahim A. Alorainy, Mohammed Zain Seidahmed, Dilek Colak, Namik Kaya, Ibrahim M. Ghozzi, Muddathir H. Hamad, Mustafa A. Salih
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
Background Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615
Autor:
Nicholas W. Wood, Saif Alshahrani, Dilek Colak, Michael C. Kruer, Kshitij Mankad, Zuhair Rahbeeni, Rozeena Huma, Khushnooda Ramzan, Rawan Almass, Stanislav Groppa, Moeenaldeen Al-Sayed, Indran Davagnanam, Fuad Almutairi, Maha S Al-Shammari, Maria Puiu, E Ghayoor Karimiani, N. Kaya, Stephanie Efthymiou, Nourelhoda A Haridy, M Beiraghi Toosi, Alya Qari, Muddathir H. Hamad, Mustafa A. Salih, Maysoon Alsagob, Somayeh Bakhtiari, Jessika Johannsen, Tatjana Bierhals, Reza Maroofian, Katja Kloth, Adela Chirita-Emandi, Henry Houlden, N T Malintan, Faiqa Imtiaz, Ibrahim A. Alorainy, Jana Vandrovcova, Laila AlQuait, Hamad Al-Zaidan, Viorica Chelban
Publikováno v:
European Journal of Neurology
Background and purpose\ud Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a074b70a1bf1d6a7a437cc5a7084b5ca
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdf
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdf
Autor:
May L. Griebel, Klaus Schmitz-Abe, Anh Thu N. Lam, Abdullah Abu Jamea, Caroline D. Robson, Mauricio R. Delgado, Sarah Servattalab, Mohammad Asif Dogar, Ibrahim A. Alorainy, A. James Barkovich, Maya Peeva, Saumya Shekhar Jamuar, Marie Drottar, Kyriacos Markianos, Khaled K. Abu-Amero, Zayed Al Zayed, Elizabeth C. Engle, P. Ellen Grant, Alissa M. D'Gama, Wai-Man Chan, Christopher A. Walsh, Nancy J. Clegg, Ed S. Lein, Timothy W. Yu, Wendy L. Ward, Thomas M. Bosley
Publikováno v:
Nature genetics
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted,
Autor:
Ibrahim A. Alorainy, M. Savarese, A. Alotaibi, Maysoon Alsagob, H. Alkhalidi, B. Udd, A. Al Jarallah, N. Kaya, Dilek Colak, Mustafa A. Salih, Muddathir H. Hamad
Publikováno v:
Journal of the Neurological Sciences. 405:38-39
Autor:
Mustafa A. Salih, N. Kaya, A. Binbakheet, Muddathir H. Hamad, Mohammed Zain Seidahmed, Ibrahim A. Alorainy
Publikováno v:
Journal of the Neurological Sciences. 405:7