Detalhe da pesquisa
1.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
2.
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
PLoS Genet
; 17(7): e1009651, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197453
3.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
J Neurochem
; 157(4): 1331-1350, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090494
4.
Disruption of HNF1α binding site causes inherited severe unconjugated hyperbilirubinemia.
J Hepatol
; 63(6): 1525-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220753
5.
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1216653, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37662110
6.
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1270299, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638311
7.
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome.
J Clin Med
; 10(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34362034
8.
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.
J Clin Med
; 10(22)2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830739
9.
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877518