skip to main content
Mostrar Somente
Refinado por: assunto: Adult remover assunto: Child remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Parkinson's Disease in Saudi Patients: A Genetic Study
Material Type:
Artigo
Adicionar ao Meu Espaço

Parkinson's Disease in Saudi Patients: A Genetic Study

Al-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 Science

Texto completo disponível

2
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Material Type:
Artigo
Adicionar ao Meu Espaço

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Al-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, Saeed

Journal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

Texto completo disponível

3
Neurological complications in liver transplantation
Material Type:
Artigo
Adicionar ao Meu Espaço

Neurological complications in liver transplantation

GHAUS, Naveed ; BOHLEGA, Saeed ; REZEIG, Mohammed

Journal of neurology, 2001-12, Vol.248 (12), p.1042-1048 [Periódico revisado por pares]

Berlin: Springer

Texto completo disponível

4
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
Material Type:
Artigo
Adicionar ao Meu Espaço

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Al-Semari, Abdulaziz ; Bohlega, Saeed

American 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 Company

Texto completo disponível

5
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
Material Type:
Artigo
Adicionar ao Meu Espaço

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Cupler, Edward J ; Bohlega, Saeed ; Hessler, Richard ; McLean, Donald ; Stigsby, Bent ; Ahmad, Javed

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.321-326 [Periódico revisado por pares]

England: Elsevier B.V

Texto completo disponível

6
Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
Material Type:
Artigo
Adicionar ao Meu Espaço

Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

Ganesh, Subramaniam ; Delgado-Escueta, Antonio V. ; Suzuki, Toshimitsu ; Francheschetti, Silvana ; Riggio, Concetta ; Avanzini, Giuiliano ; Rabinowicz, Adrian ; Bohlega, Saeed ; Bailey, Julia ; Alonso, Maria E. ; Rasmussen, Astrid ; Thomson, Alfredo E. ; Ochoa, Adriana ; Prado, Aurelio J. ; Medina, Marco T. ; Yamakawa, Kazuhiro

Human molecular genetics, 2002-05, Vol.11 (11), p.1263-1271 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível

7
T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease
Material Type:
Artigo
Adicionar ao Meu Espaço

T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease

Chishti, Muhammad A ; Bohlega, Saeed ; Ahmed, Maqbool ; Loualich, Arslan ; Carroll, Pamela ; Sato, Christine ; St George-Hyslop, Peter ; Westaway, David ; Rogaeva, Ekaterina

Archives of neurology (Chicago), 2006-10, Vol.63 (10), p.1483-1485

Chicago, IL: American Medical Association

Texto completo disponível

8
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
Material Type:
Artigo
Adicionar ao Meu Espaço

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Li, Shan ; You, Yi ; Gao, Jinsong ; Mao, Bin ; Cao, Yixuan ; Zhao, Xiuli ; Zhang, Xue

BMC medical genetics, 2018-10, Vol.19 (1), p.179-179, Article 179 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (7)

Buscando em bases de dados remotas. Favor aguardar.