Detalhe da pesquisa
1.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321325
2.
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
Am J Med Genet A
; 182(5): 1268-1272, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32134183
3.
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Pediatr Endocrinol Rev
; 17(4): 302-307, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32780953
4.
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Endocrine
; 69(3): 650-654, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372306