Detalhe da pesquisa
1.
Inconsistencies in the management of neonates born to mothers with "thyroid diseases".
Eur J Pediatr
; 177(11): 1711-1718, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187120
2.
Skin conductance in neonates suffering from abstinence syndrome and unexposed newborns.
Eur J Pediatr
; 175(6): 859-68, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026377
3.
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Am J Med Genet A
; 161A(3): 578-84, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401092
4.
["Crazy bitch!"-Experienced aggression and violence in the daily clinical routine of pediatricians]. / "Crazy bitch!" Erlebte Aggression und Gewalt im Klinikalltag von Kinderärzten.
Monatsschr Kinderheilkd
; 171(4): 331-339, 2023.
Artigo
em Alemão
| MEDLINE | ID: mdl-33100402
5.
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Orphanet J Rare Dis
; 18(1): 360, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974153
6.
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
JIMD Rep
; 50(1): 31-39, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741824
7.
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
J Clin Endocrinol Metab
; 92(5): 1909-19, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17327381
8.
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Eur J Hum Genet
; 15(6): 638-45, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17356545
9.
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
J Clin Endocrinol Metab
; 90(6): 3724-30, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15755848
10.
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
J Clin Endocrinol Metab
; 89(8): 4136-41, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15292359
11.
MKRN3 mutations in familial central precocious puberty.
Horm Res Paediatr
; 82(2): 122-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25011910
12.
Re: Chang's Score Is Only Helpful Within the First 4 to 5 Days of Life.
Pediatrics
; 140(2)2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771425
13.
Neonatal screening: identification of children with 11ß-hydroxylase deficiency by second-tier testing.
Horm Res Paediatr
; 77(3): 195-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508345
14.
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
Clin Endocrinol (Oxf)
; 65(6): 810-5, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17121535
15.
Mosaic tetrasomy 14pterq13.1: longitudinal study.
Eur J Med Genet
; 54(4): e465-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21420515
16.
Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.
Am J Med Genet A
; 134(3): 305-8, 2005 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15723300