Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegiaWakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas MBMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
|
2 |
Material Type: Artigo
|
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutationBohlega, Saeed A ; Alfawaz, Sarah ; Abou-Al-Shaar, Hussam ; Al-Hindi, Hindi N ; Murad, Hatem N ; Bohlega, Mohamed S ; Meyer, Brian F ; Monies, DorotaActa myologica, 2018-09, Vol.37 (3), p.221-226 [Periódico revisado por pares]Italy: Pacini Editore srlTexto completo disponível |
|
3 |
Material Type: Artigo
|
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi ArabiaBohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada ABMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
|
4 |
Material Type: Artigo
|
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in ArabsBOHLEGA, Saeed A ; ABU-AMERO, Khaled KSaudi medical journal, 2008-07, Vol.29 (7), p.952-956 [Periódico revisado por pares]Riyadh: Saudi Medical JournalSem texto completo |
|
5 |
Material Type: Artigo
|
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndromeMonies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, SaeedNeuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
|
6 |
Material Type: Artigo
|
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi familyWakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair NEuropean journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
|
7 |
Material Type: Artigo
|
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL familyAl-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, SaeedJournal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
|
8 |
Material Type: Artigo
|
CADASIL in Arabs: clinical and genetic findingsBohlega, Saeed ; Al Shubili, Asmahan ; Edris, Abdulrahman ; Alreshaid, Abdulrahman ; Alkhairallah, Thamer ; AlSous, M Walid ; Farah, Samir ; Abu-Amero, Khaled KBMC medical genetics, 2007-11, Vol.8 (1), p.67-67, Article 67 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
|
9 |
Material Type: Artigo
|
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissuesBohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, AmrEuropean journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
|
10 |
Material Type: Artigo
|
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among SaudisWakil, Salma M ; Murad, Hatem N ; Baz, Batoul M ; Hagos, Samiya T ; Al-Amr, Rana A ; Al-Yamani, Suad A ; Al-Wadaee, Salem M ; Meyer, Brian F ; Bohlega, Saeed ANeurosciences (Riyadh, Saudi Arabia), 2012-01, Vol.17 (1), p.48-52 [Periódico revisado por pares]Saudi ArabiaSem texto completo |