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Molecular genetics and genomics, Tập 2, Số 5, 2014
Mục lục:
DòngNội dung
1The evolution of comparative genomics / James C. Mullikin
2Genetics and genomic medicine in Saudi Arabia / Fowzan S. Alkuraya
3AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia / Nina A. Schlipf anad others
4Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease / Paula Fernandez-Guerra and others
5Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome / Peter M. Krawitz and others
6Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease / Tobias Laurell and others
7Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia / Alice F. Goodwin and others
8Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing / Daniel Trujillano and others
9Disease-related mutations among Caribbean Hispanics with familial dementia / Joseph H. Lee and others
10Disease variants in genomes of 44 centenarians / Yun Freudenberg-Hua and others
11Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY / Kandai Nozu and others