Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216524
3.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Brain
; 143(8): 2406-2420, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779703
7.
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Pediatr Nephrol
; 32(10): 1989-1992, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28620746
8.
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Hum Mutat
; 35(10): 1221-32, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044882
9.
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Orphanet J Rare Dis
; 19(1): 114, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38475835
10.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503210
11.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031187
12.
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease.
Nat Genet
; 54(11): 1690-1701, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303074
13.
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Eur J Hum Genet
; 29(11): 1663-1668, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413497
14.
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
J Mol Med (Berl)
; 98(10): 1447-1455, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839827
15.
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
J Clin Oncol
; 38(1): 43-50, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609649
16.
Hypocretin/orexin increases the expression of steroidogenic enzymes in human adrenocortical NCI H295R cells.
Am J Physiol Regul Integr Comp Physiol
; 297(5): R1601-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19793950
17.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
J Clin Invest
; 129(3): 1229-1239, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620338
18.
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Dtsch Arztebl Int
; 119(51-52): 895-896, 2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892325