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1.
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Am J Med Genet A
; 179(10): 2119-2123, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31369202
2.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Cytogenet Genome Res
; 154(4): 187-195, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29739006
3.
Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other.
Am J Med Genet A
; 152A(4): 815-8, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20358588
4.
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
Clin Chim Acta
; 464: 30-36, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27826100
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