Detalles de la búsqueda
1.
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
Neurogenetics
; 25(2): 119-130, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38388889
2.
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Clin Endocrinol (Oxf)
; 2024 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38324408
3.
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Am J Med Genet A
; 194(5): e63535, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38189198
4.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol
; 255: 109757, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37689091
5.
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Int J Neurosci
; 133(7): 683-700, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34380004
6.
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease.
Int Ophthalmol
; 43(1): 333-341, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-35953577
7.
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.
Int Ophthalmol
; 43(12): 4573-4583, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37592116
8.
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
Neurogenetics
; 23(3): 213-221, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35562614
9.
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
Clin Genet
; 102(3): 218-222, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35599435
10.
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
Calcif Tissue Int
; 110(4): 441-450, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34761296
11.
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
J Assist Reprod Genet
; 39(3): 695-710, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35066699
12.
Secondary findings in 622 Turkish clinical exome sequencing data.
J Hum Genet
; 66(11): 1113-1119, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34050257
13.
Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Clin Immunol
; 256: 109799, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37845128
14.
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
Clin Transl Sci
; 17(1): e13679, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37955180
15.
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.
Mol Syndromol
; 15(2): 104-113, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38585545
16.
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.
Mol Syndromol
; 15(1): 77-82, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38357256
17.
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
Clin Dysmorphol
; 32(2): 55-61, 2023 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36876345
18.
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.
Mol Syndromol
; 14(1): 35-43, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36777706
19.
Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS).
Neurophysiol Clin
; 53(1): 102861, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37058916
20.
Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
Eur J Paediatr Neurol
; 44: 51-56, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37141741