Results 161 to 170 of about 115,141 (275)

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia [PDF]

open access: bronze, 1998
Toshiyuki Fukao   +10 more
openalex   +1 more source

Eye in ataxia telangiectasia. [PDF]

open access: yesBMJ Case Rep, 2023
Chakraborty U, Chandra A, Dasgupta S.
europepmc   +1 more source

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority. [PDF]

open access: yesGenes (Basel)
Chamova T   +13 more
europepmc   +1 more source

Ataxia-telangiectasia: Immunodeficiency and survival.

open access: yesClinical Immunology, 2017
N. V. van Os   +16 more
semanticscholar   +1 more source

Biomarkers in Ataxia-Telangiectasia: a Systematic Review. [PDF]

open access: yesJ Neurol
Tiet MY   +14 more
europepmc   +1 more source

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia [PDF]

open access: gold, 2011
Maureen A. Lefton‐Greif   +4 more
openalex   +1 more source

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