Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Parkinson's Disease in Saudi Patients: A Genetic StudyAl-Mubarak, Bashayer R ; Bohlega, Saeed A ; Alkhairallah, Thamer S ; Magrashi, Amna I ; AlTurki, Maha I ; Khalil, Dania S ; AlAbdulaziz, Basma S ; Abou Al-Shaar, Hussam ; Mustafa, Abeer E ; Alyemni, Eman A ; Alsaffar, Bashayer A ; Tahir, Asma I ; Al Tassan, Nada A Cookson, Mark R.PloS one, 2015-08, Vol.10 (8), p.e0135950-e0135950 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
|
2 |
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 |
|
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
|
Ultrasound-guided botulinum toxin A injection in the treatment of belly dancer's dyskinesiaAlshubaili, Asmahan ; Abou-Al-Shaar, Hussam ; Santhamoorthy, Ponnusamy ; Attia, Hosam ; Bohlega, SaeedBMC neurology, 2016-11, Vol.16 (1), p.226-226, Article 226 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
|
5 |
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 |
|
6 |
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 |
|
7 |
Material Type: Artigo
|
Mutations in NHLRC1 cause progressive myoclonus epilepsyMinassian, Berge A ; Scherer, Stephen W ; Chan, Elayne M ; Young, Edwin J ; Ianzano, Leonarda ; Munteanu, Iulia ; Zhao, Xiaochu ; Christopoulos, Constantine C ; Avanzini, Giuliano ; Elia, Maurizio ; Ackerley, Cameron A ; Jovic, Nebojsa J ; Bohlega, Saeed ; Andermann, Eva ; Rouleau, Guy A ; Delgado-Escueta, Antonio VNature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
|
8 |
Material Type: Artigo
|
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese familiesLi, Shan ; You, Yi ; Gao, Jinsong ; Mao, Bin ; Cao, Yixuan ; Zhao, Xiuli ; Zhang, XueBMC medical genetics, 2018-10, Vol.19 (1), p.179-179, Article 179 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |