Detalhe da pesquisa
1.
Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
Am J Med Genet A;
191(5): 1465-1469, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36757286
2.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Am J Hum Genet;
99(2): 501-10, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27453578
3.
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Am J Med Genet A;
176(2): 421-425, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29226631
4.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Am J Hum Genet;
92(3): 468-74, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23472759
5.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Nature;
467(7312): 207-10, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20729831
6.
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
Mol Genet Genomic Med;
10(6): e1944, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35481623
7.
Changes in peanut allergy prevalence in different ethnic groups in 2 time periods.
J Allergy Clin Immunol;
135(2): 580-2, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25441289
8.
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Mol Genet Genomic Med;
9(8): e1739, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34268892
9.
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.
Am J Med Genet A;
149A(12): 2788-94, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19921640
10.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet;
50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30013181
11.
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.
Anatol J Cardiol;
26(2): 149-150, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35190366
12.
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
Cold Spring Harb Mol Case Stud;
3(5)2017 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28630369
13.
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
JAMA Dermatol;
153(6): 537-543, 2017 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28403434
14.
Epidemiology of superficial mycosis (tinea pedis, onychomycosis) in elementary school children in Istanbul, Turkey.
Coll Antropol;
30(1): 119-24, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16617585
15.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Eur J Med Genet;
58(1): 39-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25220016
16.
1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.
Indian J Pediatr;
86(11): 1068, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31270733
17.
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Pediatr Neurol;
51(6): 806-813.e8, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25456301
18.
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
Science;
339(6123): 1077-80, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23348505
19.
Prenatal health, educational attainment, and intergenerational inequality: the Northern Finland Birth Cohort 1966 Study.
Demography;
49(2): 525-52, 2012 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22371210
20.
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Nat Genet;
43(6): 590-4, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21572413