Detalhe da pesquisa
1.
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Clin Genet
; 100(5): 643-644, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435357
2.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Acta Paediatr
; 109(5): 1060-1061, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721284
3.
Children Hospitalized With Respiratory Syncytial Virus Infection: A Pre Versus Late COVID-19 Pandemic Comparison.
Pediatr Infect Dis J
; 43(3): e110-e113, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100728
4.
Sudden Infant Death Associated with Rhinovirus Infection.
Viruses
; 16(4)2024 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38675861
5.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
J Pediatr
; 163(3): 742-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535010
6.
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Eur J Hum Genet
; 24(6): 830-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395556
7.
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
Eur J Med Genet
; 52(1): 23-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19026771
8.
VEB-1 in Achromobacter xylosoxidans from cystic fibrosis patient, France.
Emerg Infect Dis
; 12(11): 1737-9, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17283625