Detalhe da pesquisa
1.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
2.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Am J Med Genet A
; 185(3): 889-893, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33369061
3.
50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.
J Pediatr
; 243: 90, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35341558
4.
Diagnostic and management considerations in pseudohypoaldosteronism type 1b.
BMJ Case Rep
; 15(1)2022 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34980640
5.
A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.
Pediatr Neurol
; 145: 112-114, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37315340