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Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate... 
Genetic inheritance | Inheritance patterns | Genes | REPORTS | Parents | Genomes | Children | Genetic mutation | Sequencing | Chromosomes | Siblings | NUCLEOTIDE | MIDDLE AWASH | RECOMBINATION | RATES | PLEISTOCENE | MULTIDISCIPLINARY SCIENCES | HUMANS | ETHIOPIA | Limb Deformities, Congenital - genetics | Crossing Over, Genetic | Genetic Association Studies | Humans | Axonemal Dyneins - genetics | Nuclear Family | Male | Genes, Recessive | Sequence Analysis, DNA | Syndrome | Inheritance Patterns | Mandibulofacial Dysostosis - genetics | Algorithms | Genes, Dominant | Pedigree | Alleles | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Abnormalities, Multiple - genetics | Ciliary Motility Disorders - genetics | Heredity | Genetic aspects | Research | Nucleotide sequencing | Brothers and sisters | Identification and classification | Methods | Multiple birth | Families & family life | Genetic disorders | Genomics | Polymorphism | Index Medicus | crossover | haplotype | inheritance state | DNAH5 | inheritance analysis | de novo mutations | haploidentical block | rare genetic disease | HMM | DHODH | whole genome sequencing | haploidentity | KIAA0556 | inheritance vector | recombination hotspot | Miller syndrome | POADS | recessive models | CES1
Journal Article
Journal Article
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 03/2013, Volume 11, Issue 3, pp. 512 - 520
Journal Article
Oncotarget, ISSN 1949-2553, 2015, Volume 6, Issue 32, pp. 32287 - 32288
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 10/2014, Volume 171, Issue 4, pp. 847 - 853
What's already known about this topic? Nagashima‐type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse... 
IGA NEPHROPATHY | SUPERFAMILY | MEGSIN | EXPRESSION | MESANGIUM-PREDOMINANT GENE |