Detalhe da pesquisa
1.
Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.
Andrologia
; 52(11): e13739, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32882067
2.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
3.
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Exp Dermatol
; 28(10): 1142-1145, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29952037
4.
Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions.
Andrologia
; 51(11): e13402, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31650616
5.
Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey.
J Med Ultrasound
; 27(4): 181-186, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867191
6.
Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
Am J Med Genet A
; 170(12): 3253-3257, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604394
7.
Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
Pediatr Allergy Immunol
; 27(1): 78-82, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26360812
8.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
9.
Premature ovarian failure due to tetrasomy X in an adolescent girl.
Eur J Pediatr
; 173(12): 1627-30, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24221609
10.
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
Am J Med Genet A
; 158A(6): 1400-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22529034
11.
t(6;9)(p23;q34) presenting acute myeloid leukemia in a child with an unsuspected 45,X/46,X,derY [?t(Yp;Yq)] chromosomal constitution: yet another Y chromosome overdosage and malignancy association.
J Pediatr Hematol Oncol
; 34(6): e237-40, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22278197
12.
Chromosomal anomalies and additional sonographic findings in fetuses with open neural tube defects.
Arch Gynecol Obstet
; 286(6): 1393-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22836815
13.
Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey.
Sisli Etfal Hastan Tip Bul
; 55(4): 551-559, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35317378
14.
Poland syndrome with intracranial germ cell tumor in a child.
Pediatr Hematol Oncol
; 26(3): 150-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19382037
15.
Long-Term Outcome of Fetuses with Soft Marker and Without Genetic or Structural Abnormality.
J Obstet Gynaecol India
; 69(1): 56-61, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30814811
16.
Impact of Fluorescent In Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey.
Turk J Haematol
; 35(1): 61-65, 2018 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129824
17.
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.
Turk J Haematol
; 34(4): 345-349, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28404538
18.
Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.
Genet Test
; 10(4): 252-7, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253930
19.
Absence of the lateral and third ventricles associated with holoprosencephaly.
Anat Cell Biol
; 48(3): 222-4, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26417484
20.
Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization.
Am J Med Genet
; 110(2): 170-5, 2002 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116256