Detalhe da pesquisa
1.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662367
2.
Screening of hydrocephalus in infants using either WHO or population-based head circumference reference charts.
Acta Paediatr
; 110(3): 881-888, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32794225
3.
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proc Natl Acad Sci U S A
; 113(5): E548-57, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26764381
4.
Atypical phenotypes in titinopathies explained by second titin mutations.
Ann Neurol
; 75(2): 230-40, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395473
5.
Analysis of neurodevelopmental outcomes of preadolescents born with extremely low weight revealed impairments in multiple developmental domains despite absence of cognitive impairment.
Health Sci Rep
; 3(3): e180, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32832703
6.
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.
Mol Genet Genomic Med
; 7(8): e802, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268248
7.
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
Hum Mutat
; 20(4): 322-3, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12325031
8.
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hum Mutat
; 23(4): 306-17, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15024725
9.
Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.
Laryngoscope
; 113(10): 1758-63, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14520102
10.
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
Acta Otolaryngol
; 132(8): 862-73, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22668073
11.
Prevalence and etiology of congenital or early acquired hearing impairment in Eastern Finland.
Int J Pediatr Otorhinolaryngol
; 73(10): 1353-7, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19616857
12.
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
Ann Neurol
; 62(3): 278-87, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17823937
13.
GJB2 mutations and degree of hearing loss: a multicenter study.
Am J Hum Genet
; 77(6): 945-57, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16380907
14.
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Arthritis Rheum
; 51(6): 925-32, 2004 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15593085
15.
Growth and biochemical markers of growth in children with snoring and obstructive sleep apnea.
Pediatrics
; 109(4): e55, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11927728