skip to main content
Idioma:
Refinado por: Lista de Todas as Versões BACON - Mir@bel - GLOBAL_LIBRESACCES remover Lista de Todas as Versões Gene Mutations remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
2
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

Bohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada A

BMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
3
Absence of mtDNA mutations in leukocytes of CADASIL patients
Absence of mtDNA mutations in leukocytes of CADASIL patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of mtDNA mutations in leukocytes of CADASIL patients

Abu-Amero, Khaled K ; Hellani, Ali ; Bohlega, Saeed

BMC research notes, 2008-05, Vol.1 (1), p.16-16 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
4
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report
Material Type:
Artigo 		Adicionar ao Meu Espaço

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

Abu-Amero, Khaled K ; Al-Dhalaan, Hesham ; Bohlega, Saeed ; Hellani, Ali ; Taylor, Robert W

Journal of medical case reports, 2009-10, Vol.3 (1), p.77-77, Article 77 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
5
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Material Type:
Artigo 		Adicionar ao Meu Espaço

Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Pullen, Melanie Y ; Weihl, Conrad C ; True, Heather L Brodsky, Jeffrey L.

PloS one, 2020-06, Vol.15 (6), p.e0234207-e0234207 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
6
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
Material Type:
Artigo 		Adicionar ao Meu Espaço

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Shen, Ting ; Hu, Jing ; Jiang, Yasi ; Zhao, Shuai ; Lin, Caixiu ; Yin, Xinzhen ; Yan, Yaping ; Pu, Jiali ; Lai, Hsin-Yi ; Zhang, Baorong

Frontiers in neurology, 2019-08, Vol.10, p.915 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

Texto completo disponível

Citações Citado por
7
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
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

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.