Detalhe da pesquisa
1.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
2.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet
; 28(4): 598-614, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335141
3.
Factors Associated with Positive SARS-CoV-2 Test Results in Outpatient Health Facilities and Emergency Departments Among Children and Adolescents Aged <18 Years - Mississippi, September-November 2020.
MMWR Morb Mortal Wkly Rep
; 69(50): 1925-1929, 2020 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332298
4.
Diaphragmatic Spasms: A Rare Presentation of a Glomangioma.
Dermatol Surg
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38754127
5.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
J Pers Med
; 13(7)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511639
6.
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Genome Med
; 14(1): 131, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414972
7.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Mol Genet Metab
; 99(2): 116-23, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836982
8.
COVID-19 in Children: A Review and Parallels to Other Hyperinflammatory Syndromes.
Front Pediatr
; 8: 593455, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33330288
9.
JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease.
Blood Cells Mol Dis
; 46(1): 103-4, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20971662