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                             17 results found
no title author magazine year volume issue page(s) type
1 A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data Trost, Brett

102 1 p. 142-155
article
2 Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation Ng, Bobby G.

102 1 p. 188-195
article
3 De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Lessel, Davor

102 1 p. 196
article
4 Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development Nielsen, Jonas B.

102 1 p. 103-115
article
5 Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Aref-Eshghi, Erfan

102 1 p. 156-174
article
6 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Koczkowska, Magdalena

102 1 p. 69-87
article
7 HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights Evans, Barbara J.

102 1 p. 5-10
article
8 Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Faundes, Víctor

102 1 p. 175-187
article
9 KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie

102 1 p. 116-132
article
10 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects Medina-Gomez, Carolina

102 1 p. 88-102
article
11 Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila Straub, Jonas

102 1 p. 44-57
article
12 Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm Bourcier, Romain

102 1 p. 133-141
article
13 The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor Brucato, Nicolas

102 1 p. 58-68
article
14 The Expanding Landscape of Alternative Splicing Variation in Human Populations Park, Eddie

102 1 p. 11-26
article
15 This Month in The Journal Ratzel, Sarah

102 1 p. 1-2
article
16 Transitions in an Era of Disruptive Change Korf, Bruce R.

102 1 p. 3-4
article
17 WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome White, Janson J.

102 1 p. 27-43
article
                             17 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands