Detalhe da pesquisa
1.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
2.
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Am J Med Genet A
; 182(4): 755-761, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970900
3.
Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center.
Mol Genet Metab
; 115(4): 151-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26138304
4.
Evaluation of state comprehensive cancer control plans for genomics content.
Prev Chronic Dis
; 9: E176, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23256909
5.
Weakness, Anemia, and Neutropenia in a 9-Year-Old Girl With Influenza.
Pediatrics
; 145(4)2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144121