| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships
|
Mighell, Taylor L.
|
|
|
106 |
6 |
p. 818-829
|
artikel
|
| 2 |
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
|
Le, Thuy-Linh
|
|
|
106 |
6 |
p. 779-792
|
artikel
|
| 3 |
Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data
|
Kibinge, Nelson K.
|
|
|
106 |
6 |
p. 885-892
|
artikel
|
| 4 |
Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval
|
Ramírez, Julia
|
|
|
106 |
6 |
p. 764-778
|
artikel
|
| 5 |
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
|
Tolchin, Dara
|
|
|
106 |
6 |
p. 830-845
|
artikel
|
| 6 |
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
|
Deng, Jianwen
|
|
|
106 |
6 |
p. 793-804
|
artikel
|
| 7 |
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
|
Dershem, Ridge
|
|
|
106 |
6 |
p. 734-747
|
artikel
|
| 8 |
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
|
Melo, Uirá Souto
|
|
|
106 |
6 |
p. 872-884
|
artikel
|
| 9 |
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data
|
Shi, Huwenbo
|
|
|
106 |
6 |
p. 805-817
|
artikel
|
| 10 |
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
|
Mechaussier, Sabrina
|
|
|
106 |
6 |
p. 859-871
|
artikel
|
| 11 |
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
|
Cogné, Benjamin
|
|
|
106 |
6 |
p. 893-904
|
artikel
|
| 12 |
Philip Leder, MD, 1934–2020, In Memoriam
|
Morton, Cynthia Casson
|
|
|
106 |
6 |
p. 731-733
|
artikel
|
| 13 |
Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases
|
González, Juan R.
|
|
|
106 |
6 |
p. 846-858
|
artikel
|
| 14 |
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits
|
Stolze, Lindsey K.
|
|
|
106 |
6 |
p. 748-763
|
artikel
|
| 15 |
The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family
|
Bamshad, Michael J.
|
|
|
106 |
6 |
p. 727-728
|
artikel
|
| 16 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
106 |
6 |
p. 729-730
|
artikel
|
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