| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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
|
artikel
|
| 2 |
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
|
Ng, Bobby G.
|
|
|
102 |
1 |
p. 188-195
|
artikel
|
| 3 |
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
|
Lessel, Davor
|
|
|
102 |
1 |
p. 196
|
artikel
|
| 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
|
artikel
|
| 5 |
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
|
Aref-Eshghi, Erfan
|
|
|
102 |
1 |
p. 156-174
|
artikel
|
| 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
|
artikel
|
| 7 |
HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights
|
Evans, Barbara J.
|
|
|
102 |
1 |
p. 5-10
|
artikel
|
| 8 |
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
|
Faundes, Víctor
|
|
|
102 |
1 |
p. 175-187
|
artikel
|
| 9 |
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
|
Gueneau, Lucie
|
|
|
102 |
1 |
p. 116-132
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 12 |
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
|
Bourcier, Romain
|
|
|
102 |
1 |
p. 133-141
|
artikel
|
| 13 |
The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor
|
Brucato, Nicolas
|
|
|
102 |
1 |
p. 58-68
|
artikel
|
| 14 |
The Expanding Landscape of Alternative Splicing Variation in Human Populations
|
Park, Eddie
|
|
|
102 |
1 |
p. 11-26
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
102 |
1 |
p. 1-2
|
artikel
|
| 16 |
Transitions in an Era of Disruptive Change
|
Korf, Bruce R.
|
|
|
102 |
1 |
p. 3-4
|
artikel
|
| 17 |
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
|
White, Janson J.
|
|
|
102 |
1 |
p. 27-43
|
artikel
|
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