Detalles de la búsqueda
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.
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Neurocase
; 28(6): 488-492, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36787709
4.
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
5.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
J Hum Genet
; 66(12): 1145-1151, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34117373
6.
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
7.
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
8.
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.
Neurol Sci
; 38(12): 2203-2207, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28687974
9.
An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.
Clin EEG Neurosci
; 54(2): 160-163, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36198020
10.
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
11.
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
12.
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
13.
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
14.
Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia.
Epileptic Disord
; 20(5): 396-400, 2018 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30361188
15.
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Am J Med Genet A
; 152A(5): 1310-3, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20425842
16.
A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.
Epilepsy Res
; 113: 5-10, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25986186
17.
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
Eur J Hum Genet
; 18(10): 1121-6, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20517349
Resultados
1 -
17
de 17
1
Próxima >
>>