Detalhe da pesquisa
1.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
2.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
3.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
4.
SYT1-associated neurodevelopmental disorder: a case series.
Brain
; 141(9): 2576-2591, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107533
5.
Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience.
Childs Nerv Syst
; 30(6): 1075-82, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24337567
6.
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
Mov Disord
; 32(5): 797-799, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150420
7.
Improved Macro- and Micronutrient Supply for Favorable Growth and Metabolomic Profile with Standardized Parenteral Nutrition Solutions for Very Preterm Infants.
Nutrients
; 14(19)2022 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36235563