Detalhe da pesquisa
1.
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.
J Intellect Disabil Res
; 65(12): 1033-1048, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34661940
2.
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
J Intellect Disabil Res
; 65(6): 577-588, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739554
3.
Genetic IGF1R defects: new cases expand the spectrum of clinical features.
J Endocrinol Invest
; 43(12): 1739-1748, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356191
4.
An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
J Intellect Disabil Res
; 63(6): 548-557, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773728
5.
A novel variant in severe disease of DADA2: involving vasculitic and haematologic features.
Scand J Rheumatol
; 52(1): 93-95, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852217
6.
TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
Genet Couns
; 27(3): 357-365, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204964
7.
Café noir spots: a feature of familial progressive hyper- and hypopigmentation.
J Eur Acad Dermatol Venereol
; 34(2): e76-e77, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571311
8.
Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome.
Am J Med Genet A
; 164A(1): 99-105, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259304
9.
Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families.
Genet Couns
; 25(1): 53-62, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24783656
10.
Opinions of Turkish physicians towards termination of pregnancy for fetal disorders.
Genet Couns
; 22(4): 401-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22303801
11.
Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients.
Gynecol Oncol
; 119(1): 131-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20638108
12.
Kabuki syndrome and trisomy 10p.
Genet Couns
; 19(3): 291-300, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18990985
13.
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.
Genet Couns
; 18(2): 171-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17710869
14.
Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: importance of ACE polymorphism.
Am J Kidney Dis
; 34(1): 140-5, 1999 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10401028
15.
Screening for the fragile X syndrome among mentally retarded males by hair root analysis.
Am J Med Genet
; 95(2): 105-7, 2000 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-11078558
16.
Methylene tetrahydrofolate reductase genotype and the risk and extent of coronary artery disease in a population with low plasma folate.
Heart
; 81(5): 518-22, 1999 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10212171
17.
Angiotensin converting enzyme gene polymorphism and the risk and extent of ischemic heart disease among Turkish patients.
Coron Artery Dis
; 8(3-4): 137-41, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9237022
18.
Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects.
J Child Neurol
; 14(3): 159-61, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10190266
19.
Factors influencing the duration of exclusive breastfeeding in a group of Turkish women.
J Hum Lact
; 17(3): 220-6, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11847987
20.
Results of the Turkish congenital malformation survey.
Turk J Pediatr
; 41(3): 287-97, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10770088