Search details
1.
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Hum Mol Genet
; 31(16): 2751-2765, 2022 08 23.
Article
in English
| MEDLINE | ID: mdl-35348658
2.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
3.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 1-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25296579
4.
ALX4 dysfunction disrupts craniofacial and epidermal development.
Hum Mol Genet
; 18(22): 4357-66, 2009 Nov 15.
Article
in English
| MEDLINE | ID: mdl-19692347
5.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 51, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25619591
6.
Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years.
Acta Cardiol
; 63(5): 585-9, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-19014001
7.
Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome.
World J Pediatr
; 12(4): 463-469, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27059745
8.
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron
; 88(3): 499-513, 2015 Nov 04.
Article
in English
| MEDLINE | ID: mdl-26539891
9.
Corneal biomechanical properties and intraocular pressure measurement in Marfan patients.
J Cataract Refract Surg
; 38(2): 309-14, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22153358
10.
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
Int J Cardiol
; 186: 13-5, 2015.
Article
in English
| MEDLINE | ID: mdl-25804457
11.
Ocular anomalies in Rubinstein-Taybi syndrome: a further case report and review of the literature.
Clin Dysmorphol
; 23(4): 138-42, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25075451
12.
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Eur J Med Genet
; 52(5): 315-20, 2009.
Article
in English
| MEDLINE | ID: mdl-19460469
13.
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.
J Genet Genomics
; 36(4): 251-6, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19376485
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