Detalhe da pesquisa
1.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
2.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
3.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
4.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
5.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
6.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
7.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
8.
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
9.
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
10.
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
11.
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
12.
Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.
Fetal Pediatr Pathol
; 43(3): 246-250, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186349
13.
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Clin Genet
; 104(2): 251-258, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068767
14.
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
15.
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes Obes Metab
; 25(7): 1950-1963, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36946378
16.
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
BMC Oral Health
; 23(1): 314, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221585
17.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344616
18.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
19.
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Clin Genet
; 101(2): 221-232, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750818
20.
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