Detalhe da pesquisa
1.
A randomised trial of high-flow nasal cannula in infants with moderate bronchiolitis.
Eur Respir J
; 56(1)2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381496
2.
Appropriate thresholds for accurate screening for ß-thalassemias in the newborn period: results from a French center for newborn screening.
Clin Chem Lab Med
; 59(1): 209-216, 2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813673
3.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Hum Mutat
; 40(7): 938-951, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067009
4.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
5.
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
J Med Genet
; 49(5): 317-21, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510444
6.
Epidemiology and Clinical Presentation of Children Hospitalized with SARS-CoV-2 Infection in Suburbs of Paris.
J Clin Med
; 9(7)2020 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32674306
7.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Am J Med Genet A
; 119A(3): 257-65, 2003 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12784289
8.
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
Am J Med Genet A
; 143A(2): 208-13, 2007 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17163542