Detalhe da pesquisa
1.
Astrogenesis in the murine dentate gyrus is a life-long and dynamic process.
EMBO J
; 41(11): e110409, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451150
2.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429829
3.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496032
4.
Deletion and point mutations of PTHLH cause brachydactyly type E.
Am J Hum Genet
; 86(3): 434-9, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170896
5.
Transition of young adults with phenylketonuria from pediatric to adult care.
J Inherit Metab Dis
; 34(3): 701-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21305352
6.
Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement.
Eur J Endocrinol
; 184(4): 487-501, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524003
7.
A case of maternal PKU syndrome despite intensive patient counseling.
Wien Med Wochenschr
; 159(19-20): 507-10, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19898791
8.
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
J Clin Endocrinol Metab
; 93(3): 1062-71, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18073311
9.
Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development.
Mol Cell Endocrinol
; 265-266: 190-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17210222
10.
Growth and Final Height Among Children With Phenylketonuria.
Pediatrics
; 140(5)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29089407
11.
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
Hum Mutat
; 25(5): 502-3, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15841486
12.
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
J Clin Endocrinol Metab
; 89(10): 5256-65, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15472232
13.
Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature.
J Pediatr Endocrinol Metab
; 27(1-2): 165-70, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23950569