Detalhe da pesquisa
1.
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.
J Pediatr
; 252: 93-100, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067876
2.
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.
J Hum Genet
; 67(9): 553-556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338243
3.
Epidemiology and survival of childhood cancer in Turkey.
Pediatr Blood Cancer
; 68(2): e28754, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034155
4.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
5.
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Bone
; 167: 116614, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36400164
6.
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Eur J Med Genet
; 64(7): 104248, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34000439
7.
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Gene
; 704: 59-67, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30980944
8.
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
Gene
; 642: 398-407, 2018 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29170090