Detalhe da pesquisa
1.
The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.
Genes Cells
; 26(3): 165-179, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33484574
2.
Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.
Clin Endocrinol (Oxf)
; 94(6): 940-948, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595839
3.
The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients.
Clin Endocrinol (Oxf)
; 94(2): 229-236, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001476
4.
Preferable in vitro condition for maintaining faithful DNA methylation imprinting in mouse embryonic stem cells.
Genes Cells
; 23(3): 146-160, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356242
5.
Autonomously functioning thyroid nodule due to a somatic TSHR mutation.
Pediatr Int
; 64(1): e15157, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998123
6.
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Patient Prefer Adherence
; 17: 1885-1894, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37545653
7.
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.
Hum Genome Var
; 9(1): 42, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450716
8.
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
; 107(12): 3341-3352, 2022 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071550
9.
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
Clin Pediatr Endocrinol
; 30(4): 155-161, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34629737
10.
In vitro generation of functional murine heart organoids via FGF4 and extracellular matrix.
Nat Commun
; 11(1): 4283, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32883967
11.
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.
Eur J Med Genet
; 63(1): 103626, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711679
12.
Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases.
Clin Pediatr Endocrinol
; 28(4): 105-112, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666763
13.
Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.
Endocrine
; 61(1): 76-82, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691808