| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project
|
Machini, Kalotina
|
|
2019
|
105 |
1 |
p. 177-188
|
artikel
|
| 2 |
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare
|
Stark, Zornitza
|
|
2019
|
105 |
1 |
p. 7-14
|
artikel
|
| 3 |
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
|
Rafehi, Haloom
|
|
2019
|
105 |
1 |
p. 151-165
|
artikel
|
| 4 |
David “DJ” Weatherall
|
Peto, Tim E.
|
|
2019
|
105 |
1 |
p. 3-6
|
artikel
|
| 5 |
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
|
Dulovic-Mahlow, Marija
|
|
2019
|
105 |
1 |
p. 213-220
|
artikel
|
| 6 |
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology
|
Spracklen, Cassandra N.
|
|
2019
|
105 |
1 |
p. 15-28
|
artikel
|
| 7 |
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
|
Tian, Yun
|
|
2019
|
105 |
1 |
p. 166-176
|
artikel
|
| 8 |
Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE
|
Dimitromanolakis, Apostolos
|
|
2019
|
105 |
1 |
p. 78-88
|
artikel
|
| 9 |
Genes for Good: Engaging the Public in Genetics Research via Social Media
|
Brieger, Katharine
|
|
2019
|
105 |
1 |
p. 65-77
|
artikel
|
| 10 |
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver
|
Çalışkan, Minal
|
|
2019
|
105 |
1 |
p. 89-107
|
artikel
|
| 11 |
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
|
Whitfield, Marjorie
|
|
2019
|
105 |
1 |
p. 198-212
|
artikel
|
| 12 |
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice
|
Torres-Benito, Laura
|
|
2019
|
105 |
1 |
p. 221-230
|
artikel
|
| 13 |
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
|
Fichtman, Boris
|
|
2019
|
105 |
1 |
p. 48-64
|
artikel
|
| 14 |
Public Discussion Affects Question Asking at Academic Conferences
|
Telis, Natalie
|
|
2019
|
105 |
1 |
p. 189-197
|
artikel
|
| 15 |
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
|
Cousin, Margot A.
|
|
2019
|
105 |
1 |
p. 108-121
|
artikel
|
| 16 |
Systematic Functional Interrogation of Genes in GWAS Loci Identified ATF1 as a Key Driver in Colorectal Cancer Modulated by a Promoter-Enhancer Interaction
|
Tian, Jianbo
|
|
2019
|
105 |
1 |
p. 29-47
|
artikel
|
| 17 |
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
|
Pehlivan, Davut
|
|
2019
|
105 |
1 |
p. 132-150
|
artikel
|
| 18 |
Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior
|
Nelson, Sarah C.
|
|
2019
|
105 |
1 |
p. 122-131
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2019
|
105 |
1 |
p. 1-2
|
artikel
|
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