Detalhe da pesquisa
1.
Impact of the COVID-19 pandemic on the mental health of frontline healthcare workers in a highly affected region in Brazil.
BMC Psychiatry
; 23(1): 255, 2023 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37069533
2.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
BMC Pediatr
; 22(1): 492, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986266
3.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Hum Mutat
; 42(2): 142-149, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300232
4.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
5.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Am J Med Genet A
; 182(7): 1767-1775, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32297715
6.
[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]. / Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular.
Rev Chil Pediatr
; 89(3): 399-408, 2018 Jun.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29999148
7.
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]. / Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV).
Rev Chil Pediatr
; 87(5): 422-431, 2016.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27234469
8.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
9.
Wheat flour fortification with folic acid: changes in neural tube defects rates in Chile.
Am J Med Genet A
; 158A(8): 1885-90, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711368
10.
Patterns of multimorbidity and some psychiatric disorders: A systematic review of the literature.
Front Psychol
; 13: 940978, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36186392
11.
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.
Arq Neuropsiquiatr
; 77(7): 470-477, 2019 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365638
12.
National food-fortification program with folic acid in Chile.
Food Nutr Bull
; 29(2 Suppl): S231-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18709898
13.
Scoping review on vector-borne diseases in urban areas: transmission dynamics, vectorial capacity and co-infection.
Infect Dis Poverty
; 7(1): 90, 2018 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30173661
14.
Time series analysis of dengue surveillance data in two Brazilian cities.
Acta Trop
; 182: 190-197, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545150
15.
Cost-effectiveness of a folic acid fortification program in Chile.
Health Policy
; 83(2-3): 295-303, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17363103
16.
Economic Impact of Dengue: Multicenter Study across Four Brazilian Regions.
PLoS Negl Trop Dis
; 9(9): e0004042, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402905
17.
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
Eur J Hum Genet
; 10(10): 638-42, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12357335
18.
Folic acid fortification of wheat flour: Chile.
Nutr Rev
; 62(6 Pt 2): S44-8; discussion S49, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15298448
19.
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile / Atrofia muscular espinal en Chile, resultados de un programa de atención médica nacional
Arq. neuropsiquiatr
; 77(7): 470-477, July 2019. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-1011362
20.
Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance
Rev. chil. pediatr
; 89(3): 399-408, jun. 2018. tab, graf
Artigo
em Espanhol
| LILACS | ID: biblio-959540