Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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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 |
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2 |
Material Type: Artigo
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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]Pacini Editore srlTexto completo disponível |
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3 |
Material Type: Artigo
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesBohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada ABMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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4 |
Material Type: Artigo
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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 |
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5 |
Material Type: Artigo
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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 |
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6 |
Material Type: Artigo
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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 |
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7 |
Material Type: Artigo
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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 |
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8 |
Material Type: Artigo
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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 |
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9 |
Material Type: Artigo
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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 |
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10 |
Material Type: Artigo
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous FamiliesAlazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |