Detalhe da pesquisa
1.
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Am J Med Genet A
; 191(7): 1849-1857, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081310
2.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942433
3.
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.
J Hum Genet
; 65(2): 193-197, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31767933
4.
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
J Hum Genet
; 64(5): 409-419, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816285
5.
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
BMC Med Genet
; 19(1): 85, 2018 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801475
6.
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Neuropediatrics
; 49(6): 373-378, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114719
7.
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
J Hum Genet
; 62(7): 723-727, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356563
8.
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Mol Cell Probes
; 30(1): 18-21, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26631803
9.
ESAM supports neutrophil extravasation, activation of Rho, and VEGF-induced vascular permeability.
J Exp Med
; 203(7): 1671-7, 2006 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-16818677
10.
Schmerzhafte Knoten.
J Dtsch Dermatol Ges
; 14(6): 627-629, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240080
11.
Painful nodules.
J Dtsch Dermatol Ges
; 14(6): 627-629, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240081
12.
Murine CXCL14 is dispensable for dendritic cell function and localization within peripheral tissues.
Mol Cell Biol
; 27(3): 983-92, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17130243
13.
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome.
Clin Case Rep
; 7(8): 1522-1525, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428380
14.
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
J Appl Genet
; 60(2): 151-162, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706430
15.
Tenomodulin is necessary for tenocyte proliferation and tendon maturation.
Mol Cell Biol
; 25(2): 699-705, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15632070
16.
Novel causative variants in patients with achromatopsia.
Ophthalmic Genet
; 39(6): 678-683, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289319
17.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Eur J Hum Genet
; 26(4): 592-598, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449720
18.
Chondromodulin I is dispensable during enchondral ossification and eye development.
Mol Cell Biol
; 22(18): 6627-35, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12192060
19.
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Sci Rep
; 7(1): 6149, 2017 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733637
20.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Eur J Hum Genet
; 25(2): 176-182, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27848944