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journal of human genetics
سال:2015 - دوره:60 - شماره:12
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
- صفحه:777-780
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
- صفحه:769-776
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
- صفحه:743-747
Cytidine deaminase polymorphisms and worse treatment response in normal karyotype AML
- صفحه:749-754
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance
- صفحه:739-742
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
- صفحه:781-785
Erratum: Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western Eurasians
- صفحه:787-787
Evaluation of a two-step iterative resampling procedure for internal validation of genome-wide association studies
- صفحه:729-738
Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study
- صفحه:755-761
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
- صفحه:763-768
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