Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Trichothiodystrophy causative TFIIEß mutation affects transcription in highly differentiated tissue.
Hum Mol Genet
; 26(23): 4689-4698, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973399
3.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361404
4.
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
J Biol Chem
; 292(30): 12621-12631, 2017 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28584052
5.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489027
6.
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Rheumatology (Oxford)
; 55(5): 902-10, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26867732
7.
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
Clin Endocrinol (Oxf)
; 89(3): 378-380, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29876959
8.
Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients.
BJU Int
; 109(8): 1243-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883843
9.
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
J Clin Endocrinol Metab
; 107(11): 3035-3044, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071555
10.
Attitudes of Klinefelter men and their relatives towards TESE-ICSI.
J Assist Reprod Genet
; 28(9): 809-14, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21717174
11.
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
NPJ Genom Med
; 6(1): 92, 2021 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750377
12.
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hum Mutat
; 31(12): E1915-27, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886638
13.
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
Eur J Hum Genet
; 28(5): 674-678, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804630
14.
Maternal risk associated with the VACTERL association: A case-control study.
Birth Defects Res
; 112(18): 1495-1504, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179873
15.
Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample.
Schizophr Res
; 93(1-3): 399-402, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17459660
16.
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Nat Genet
; 49(11): 1642-1646, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28920961
17.
Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development.
Hemasphere
; 6(10): e774, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36168523
18.
Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
Mol Syndromol
; 7(3): 153-9, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27587991
19.
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
NPJ Genom Med
; 6(1): 100, 2021 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34819528
20.
[An infant with remarkable soles of his feet]. / Een zuigeling met opvallende voetzolen.
Ned Tijdschr Geneeskd
; 160: A9500, 2015.
Artigo
em Holandês
| MEDLINE | ID: mdl-26934435