Detalhe da pesquisa
1.
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Am J Med Genet A
; 191(4): 1070-1076, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574749
2.
A lethal phenotype associated with tissue plasminogen deficiency in humans.
Hum Genet
; 135(10): 1209-11, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27417437
3.
Pure Autonomic Failure with Asymptomatic Hypertensive Urgency: A Case Report and Literature Review.
Case Rep Neurol
; 10(3): 357-362, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30687067
4.
A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.
JAAD Case Rep
; 21: 103-105, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35198712