| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
|
Wright, Caroline F.
|
|
|
104 |
2 |
p. 275-286
|
artikel
|
| 2 |
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
|
Coutton, Charles
|
|
|
104 |
2 |
p. 331-340
|
artikel
|
| 3 |
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
|
Karolak, Justyna A.
|
|
|
104 |
2 |
p. 213-228
|
artikel
|
| 4 |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
|
Reynhout, Sara
|
|
|
104 |
2 |
p. 357
|
artikel
|
| 5 |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
|
Zawerton, Ash
|
|
|
104 |
2 |
p. 246-259
|
artikel
|
| 6 |
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
|
Platzer, Konrad
|
|
|
104 |
2 |
p. 203-212
|
artikel
|
| 7 |
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies
|
Chen, Han
|
|
|
104 |
2 |
p. 260-274
|
artikel
|
| 8 |
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria
|
Mirmiran, Arienne
|
|
|
104 |
2 |
p. 341-347
|
artikel
|
| 9 |
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness
|
Shahi, Pawan K.
|
|
|
104 |
2 |
p. 310-318
|
artikel
|
| 10 |
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance
|
Hayeck, Tristan J.
|
|
|
104 |
2 |
p. 299-309
|
artikel
|
| 11 |
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
|
Bustamante-Marin, Ximena M.
|
|
|
104 |
2 |
p. 229-245
|
artikel
|
| 12 |
Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics
|
Klein, William M.P.
|
|
|
104 |
2 |
p. 193-196
|
artikel
|
| 13 |
Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners
|
Wright, Elizabeth A.
|
|
|
104 |
2 |
p. 197-202
|
artikel
|
| 14 |
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
|
Ganapathi, Mythily
|
|
|
104 |
2 |
p. 287-298
|
artikel
|
| 15 |
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways
|
Dorval, Guillaume
|
|
|
104 |
2 |
p. 348-355
|
artikel
|
| 16 |
The Genetic Landscape of Diamond-Blackfan Anemia
|
Ulirsch, Jacob C.
|
|
|
104 |
2 |
p. 356
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
104 |
2 |
p. 191-192
|
artikel
|
| 18 |
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
|
Carapito, Raphael
|
|
|
104 |
2 |
p. 319-330
|
artikel
|
Tijdschrift beschrijving