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1.
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.
Neurol Sci
; 45(5): 2271-2277, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38012464
2.
Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.
Int J Neurosci
; : 1-6, 2023 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37099669
3.
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Neurocase
; 28(1): 37-41, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35188090
4.
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.
J Hum Genet
; 64(5): 421-426, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-30787422
5.
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
Neurol Neurochir Pol
; 53(6): 476-483, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31804703
6.
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
Genes Genomics
; 45(1): 13-21, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36371492
7.
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.
Front Public Health
; 10: 1049349, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36684907
8.
Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach.
PLoS One
; 14(2): e0211917, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30735541
9.
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Neuromolecular Med
; 21(1): 54-59, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30612247
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