Detalhe da pesquisa
1.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
J Med Genet
; 60(6): 597-607, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36328423
2.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35574990
3.
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
Neuropediatrics
; 51(1): 37-44, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31639880
4.
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
J Med Genet
; 54(1): 64-72, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27572252
5.
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.
J Clin Med
; 11(2)2022 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35054066
6.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Orphanet J Rare Dis
; 17(1): 51, 2022 02 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35164809
7.
Consensus clinical management guidelines for Niemann-Pick disease type C.
Orphanet J Rare Dis
; 13(1): 50, 2018 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29625568
8.
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.
J Neurol
; 262(11): 2557-63, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26338816
9.
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.
Pediatr Neonatol
; 54(5): 344-7, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23597521
10.
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Orphanet J Rare Dis
; 8: 35, 2013 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-23433426