Detalhe da pesquisa
1.
A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.
J Pediatr Hematol Oncol
; 46(3): e214-e219, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408162
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
3.
Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.
Int J Neurosci
; : 1-6, 2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269313
4.
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
J Hum Genet
; 67(5): 279-284, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983975
5.
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
Neuropediatrics
; 51(6): 430-434, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369837
6.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280135
7.
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
Horm Res Paediatr
; 97(2): 126-133, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315542
8.
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
Mol Syndromol
; 14(2): 175-180, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064342
9.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Front Genet
; 14: 1191159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377599
10.
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
Turk J Pediatr
; 64(1): 69-78, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286032
11.
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Lys Gene.
Mol Syndromol
; 13(4): 305-317, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36158049
12.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 11(1): 4038, 2020 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32788587
13.
First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey.
Turk J Haematol
; 30(2): 223-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385794
14.
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nat Med
; 23(10): 1226-1233, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869610
15.
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 12(1): 1192, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33589599