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                             18 results found
no title author magazine year volume issue page(s) type
1 A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans Zhu, Qianqian
 2011
 88 4 p. 458-468
11 p.
 article
2 A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy Huigsloot, Merei
 2011
 88 4 p. 488-493
6 p.
 article
3 A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis Israeli, Shirli
 2011
 88 4 p. 482-487
6 p.
 article
4 Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity Pereira, Luísa
 2011
 88 4 p. 433-439
7 p.
 article
5 DPY19L2 Deletion as a Major Cause of Globozoospermia Koscinski, Isabelle
 2011
 88 4 p. 517-
1 p.
 article
6 Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability Hamdan, Fadi F.
 2011
 88 4 p. 516-
1 p.
 article
7 Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis Mill, Pleasantine
 2011
 88 4 p. 508-515
8 p.
 article
8 Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel González-Pérez, Abel
 2011
 88 4 p. 440-449
10 p.
 article
9 Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism Erez, Ayelet
 2011
 88 4 p. 402-421
20 p.
 article
10 Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome Bem, Danai
 2011
 88 4 p. 499-507
9 p.
 article
11 Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism López-Hernández, Tania
 2011
 88 4 p. 422-432
11 p.
 article
12 Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections Wang, Li
 2011
 88 4 p. 516-
1 p.
 article
13 Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research Talkowski, Michael E.
 2011
 88 4 p. 469-481
13 p.
 article
14 Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans Gigarel, Nadine
 2011
 88 4 p. 494-498
5 p.
 article
15 This Month in Genetics Garber, Kathryn B.
 2011
 88 4 p. 399-400
2 p.
 article
16 This Month in The Journal Bungartz, Kathryn D.
 2011
 88 4 p. 397-398
2 p.
 article
17 Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication Breitling, Lutz P.
 2011
 88 4 p. 450-457
8 p.
 article
18 Vogel and Motulsky's Human Genetics, 4th Edition Alkuraya, Fowzan S.
 2011
 88 4 p. 401-
1 p.
 article
                             18 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands