1.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
by Li, Zejuan
Journal of human genetics, 2015-07, Vol.60 (7), p.363-369
2.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
by Helgeson, Maria
Journal of human genetics, 2018-03, Vol.63 (3), p.349-356
3.
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
by Oshima, Junko
Journal of human genetics, 2011-07, Vol.56 (7), p.516-523
4.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
by del Gaudio, Daniela
Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
5.
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
by Sahoo, Trilochan
Genetics in medicine, 2006-11, Vol.8 (11), p.719-727
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