Detalhe da pesquisa
1.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
2.
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Am J Med Genet A
; 182(3): 557-560, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833174
3.
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371413
4.
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
Eur J Med Genet
; 62(8): 103701, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31195167