Detalhe da pesquisa
1.
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1411, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106389
2.
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1405-1410, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014443
3.
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
J Inherit Metab Dis
; 42(2): 381-388, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701556
4.
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
Am J Med Genet A
; 173(11): 2954-2967, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884960
5.
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Metab Brain Dis
; 32(5): 1389-1393, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752220
6.
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Eur J Pediatr
; 174(8): 1077-84, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754625
7.
Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect.
Am J Med Genet B Neuropsychiatr Genet
; 183(1): 3-4, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512396
8.
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
J Hum Genet
; 58(10): 675-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924834
9.
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
J Clin Immunol
; 34(3): 265-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549407
10.
Five novel ALMS1 gene mutations in six patients with Alström syndrome.
J Pediatr Endocrinol Metab
; 31(6): 681-687, 2018 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29715191
11.
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Brain Dev
; 40(6): 458-464, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29544888
12.
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
Clin Dysmorphol
; 26(1): 1-12, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27547915
13.
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
Turk J Med Sci
; 46(2): 404-8, 2016 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511503
14.
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
DNA Cell Biol
; 33(12): 876-83, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25148430
15.
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Eur J Med Genet
; 57(10): 596-601, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25220015