Detalhe da pesquisa
1.
Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency.
Cardiol Young
; 32(1): 88-93, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941295
2.
Functional assessment of variants associated with Wolfram syndrome.
Hum Mol Genet
; 28(22): 3815-3824, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600780
3.
Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia.
Horm Metab Res
; 52(9): 654-659, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108931
4.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231873
5.
Clinical and genetic characterisation of a series of patients with triple A syndrome.
Eur J Pediatr
; 177(3): 363-369, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29255950
6.
Near final height in patients with idiopathic growth hormone deficiency: A single-centre experience.
J Paediatr Child Health
; 54(11): 1221-1226, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29806866
7.
A major health problem facing immigrant children: nutritional rickets.
J Pediatr Endocrinol Metab
; 35(2): 223-229, 2022 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34610231
8.
First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly.
Mol Syndromol
; 12(4): 258-262, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421505
9.
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.
J Pediatr Endocrinol Metab
; 34(6): 771-780, 2021 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33819414
10.
Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome.
J Pediatr Endocrinol Metab
; 34(7): 911-916, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887129
11.
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
Metab Syndr Relat Disord
; 19(6): 340-346, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33794673
12.
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
Horm Res Paediatr
; 93(9-10): 558-566, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33780934
13.
Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.
Horm Res Paediatr
; 91(4): 278-284, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30227399
14.
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
J Pediatr Endocrinol Metab
; 32(11): 1287-1293, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472064
15.
Detection of the SRY gene in patients with Turner Syndrome.
J Gynecol Obstet Hum Reprod
; 48(4): 265-267, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30685428
16.
Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.
Horm Res Paediatr
; 91(3): 175-185, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018202
17.
Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation.
J Pediatr Endocrinol Metab
; 32(6): 647-651, 2019 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31141481
18.
Antimüllerian Hormone Levels of Infants with Premature Thelarche
J Clin Res Pediatr Endocrinol
; 11(3): 287-292, 2019 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859797
19.
Congenital long-QT syndrome in type 1 diabetes: a unique association.
Turk J Pediatr
; 61(5): 791-793, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32105015
20.
SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.
J Pediatr Endocrinol Metab
; 31(11): 1273-1278, 2018 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30332396