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1.
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
2.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30401460
3.
Mothers of 0-3-year-old children with Down syndrome: Effects on quality of life.
Pediatr Int
; 61(9): 865-871, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31267616
4.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Genet Med
; 18(4): 364-71, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26226137
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): 1-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25296579
6.
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
7.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Dev Cell
; 51(6): 713-729.e6, 2019 12 16.
Article
in English
| MEDLINE | ID: mdl-31735666
8.
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
J Clin Endocrinol Metab
; 104(8): 3049-3067, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31042289
9.
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Neuron
; 93(1): 115-131, 2017 Jan 04.
Article
in English
| MEDLINE | ID: mdl-28017472
10.
Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.
Clin Dysmorphol
; 30(3): 147-149, 2021 Jul 01.
Article
in English
| MEDLINE | ID: mdl-33605603
11.
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
J Clin Invest
; 125(2): 636-51, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25574841
12.
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
13.
Increased central corneal thickness in patients with Turner syndrome.
Eur J Ophthalmol
; 24(3): 309-13, 2014.
Article
in English
| MEDLINE | ID: mdl-24242223
14.
Genotoxicity of thallium-201 in patients with angina pectoris undergoing myocardial perfusion study.
Tohoku J Exp Med
; 206(4): 299-304, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-15997200
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