Detalhe da pesquisa
1.
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Clin Genet
; 105(6): 596-610, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278647
2.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 561(7722): E7, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977062
3.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 557(7706): 564-569, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769720
4.
Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.
Fetal Diagn Ther
; 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346409
5.
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Am J Med Genet A
; 191(2): 498-509, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398383
6.
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Clin Genet
; 101(4): 421-428, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066879
7.
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.
Am J Med Genet A
; 188(1): 253-258, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467646
8.
Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
Arch Gynecol Obstet
; 305(2): 323-342, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145474
9.
Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.
Scott Med J
; 67(4): 173-177, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862016
10.
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
Cytogenet Genome Res
; 161(3-4): 153-159, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229322
11.
Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism.
Clin Endocrinol (Oxf)
; 94(6): 973-979, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550653
12.
Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.
Ultraschall Med
; 41(2): 175-185, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253427
13.
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.
J Obstet Gynaecol Res
; 45(8): 1472-1478, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155818
14.
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
Am J Med Genet A
; 161A(7): 1737-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686885
15.
A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
Syst Biol Reprod Med
; 69(5): 387-393, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401907
16.
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
Mol Syndromol
; 14(2): 152-157, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064338
17.
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.
Mol Syndromol
; 14(3): 246-253, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323193
18.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Front Genet
; 14: 1191159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377599
19.
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
J Clin Res Pediatr Endocrinol
; 15(4): 338-347, 2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338295
20.
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
EMBO Mol Med
; 15(11): e17973, 2023 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800682