Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
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 |
|
2 |
Material Type: Artigo
|
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1Al-Semari, Abdulaziz ; Bohlega, SaeedAmerican journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.149-160 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
|
3 |
Material Type: Artigo
|
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal SyndromeAlazami, Anas M. ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P. ; Schneider, Susanne A. ; Sakati, Nadia ; Walsh, Christopher A. ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S.American journal of human genetics, 2008-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
4 |
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 |