journal of human genetics سال:2015 - دوره:60

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journal of human genetics
سال:2015 - دوره:60 - شماره:4

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation - صفحه:187-191 Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2 - صفحه:199-202 Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach - صفحه:175-182 Genetic diversity of disease-associated loci in Turkish population - صفحه:193-198 How should the legal framework for the protection of human genomic data be formulated?—Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act) - صفحه:225-226 Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent - صفحه:203-206 NF1 single and multi-exons copy number variations in neurofibromatosis type 1 - صفحه:221-224 Novel microduplications at Xp11.22 including HUWE1 : clinical and molecular insights into these genomic rearrangements associated with intellectual disability - صفحه:207-211 Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome - صفحه:217-220 Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31 - صفحه:183-185 Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations - صفحه:213-215 SPTAN1 encephalopathy: distinct phenotypes and genotypes - صفحه:167-173