| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
|
Xu, Zhiwen
|
|
|
103 |
1 |
p. 100-114
|
artikel
|
| 2 |
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
|
Whitworth, James
|
|
|
103 |
1 |
p. 3-18
|
artikel
|
| 3 |
Concern about Justifying the Release of Genomic Data as a Civil Right
|
Dreyfus, Jennifer C.
|
|
|
103 |
1 |
p. 163-165
|
artikel
|
| 4 |
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
|
Son, Jung Hoon
|
|
|
103 |
1 |
p. 58-73
|
artikel
|
| 5 |
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
|
Tokita, Mari J.
|
|
|
103 |
1 |
p. 154-162
|
artikel
|
| 6 |
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
|
Ito, Yoko
|
|
|
103 |
1 |
p. 144-153
|
artikel
|
| 7 |
Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics
|
Weissbrod, Omer
|
|
|
103 |
1 |
p. 89-99
|
artikel
|
| 8 |
Inferring Identical-by-Descent Sharing of Sample Ancestors Promotes High-Resolution Relative Detection
|
Ramstetter, Monica D.
|
|
|
103 |
1 |
p. 30-44
|
artikel
|
| 9 |
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
|
Wesdorp, Mieke
|
|
|
103 |
1 |
p. 74-88
|
artikel
|
| 10 |
Natural Selection Has Differentiated the Progesterone Receptor among Human Populations
|
Li, Jingjing
|
|
|
103 |
1 |
p. 45-57
|
artikel
|
| 11 |
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations
|
O’Connell, Amy E.
|
|
|
103 |
1 |
p. 131-137
|
artikel
|
| 12 |
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
|
Di Gioia, Silvio Alessandro
|
|
|
103 |
1 |
p. 115-124
|
artikel
|
| 13 |
Response to Dreyfus and Sobel
|
Evans, Barbara J.
|
|
|
103 |
1 |
p. 166-168
|
artikel
|
| 14 |
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
|
Coman, David
|
|
|
103 |
1 |
p. 125-130
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
103 |
1 |
p. 1-2
|
artikel
|
| 16 |
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes
|
Shirts, Brian H.
|
|
|
103 |
1 |
p. 19-29
|
artikel
|
| 17 |
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants”
|
Kwartler, Callie S.
|
|
|
103 |
1 |
p. 138-143
|
artikel
|
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