Detalhe da pesquisa
1.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
2.
[On the fast track to diagnosis : Recommendations for patients without a diagnosis]. / Kurze Wege zur Diagnose : Eine Handlungsempfehlung für Patienten ohne Diagnose.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 60(5): 517-522, 2017 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-28289775
3.
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Eur J Hum Genet
; 24(12): 1739-1745, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436265