| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
|
Zhao, Jing
|
|
2016
|
98 |
2 |
p. 299-309
11 p.
|
artikel
|
| 2 |
A Robust Example of Collider Bias in a Genetic Association Study
|
Day, Felix R.
|
|
2016
|
98 |
2 |
p. 392-393
2 p.
|
artikel
|
| 3 |
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
|
Santos-Cortez, Regie Lyn P.
|
|
2016
|
98 |
2 |
p. 331-338
8 p.
|
artikel
|
| 4 |
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
|
Kremer, Laura S.
|
|
2016
|
98 |
2 |
p. 358-362
5 p.
|
artikel
|
| 5 |
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
|
Jansen, Jos C.
|
|
2016
|
98 |
2 |
p. 310-321
12 p.
|
artikel
|
| 6 |
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
|
Reijnders, Margot R.F.
|
|
2016
|
98 |
2 |
p. 373-381
9 p.
|
artikel
|
| 7 |
Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease
|
Peyrot, Wouter J.
|
|
2016
|
98 |
2 |
p. 382-391
10 p.
|
artikel
|
| 8 |
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans
|
Schick, Ursula M.
|
|
2016
|
98 |
2 |
p. 229-242
14 p.
|
artikel
|
| 9 |
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors
|
Dannemann, Michael
|
|
2016
|
98 |
2 |
p. 399-
1 p.
|
artikel
|
| 10 |
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
|
Kane, Megan S.
|
|
2016
|
98 |
2 |
p. 339-346
8 p.
|
artikel
|
| 11 |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
|
Lalani, Seema R.
|
|
2016
|
98 |
2 |
p. 347-357
11 p.
|
artikel
|
| 12 |
Response to Day et al.
|
Aschard, Hugues
|
|
2016
|
98 |
2 |
p. 394-395
2 p.
|
artikel
|
| 13 |
Response to Hellenthal et al.:
|
Ayub, Qasim
|
|
2016
|
98 |
2 |
p. 398-
1 p.
|
artikel
|
| 14 |
Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease
|
Jiang, Duo
|
|
2016
|
98 |
2 |
p. 243-255
13 p.
|
artikel
|
| 15 |
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
|
Kasher, Paul R.
|
|
2016
|
98 |
2 |
p. 363-372
10 p.
|
artikel
|
| 16 |
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease
|
Keum, Jae Whan
|
|
2016
|
98 |
2 |
p. 287-298
12 p.
|
artikel
|
| 17 |
The Kalash Genetic Isolate? The Evidence for Recent Admixture
|
Hellenthal, Garrett
|
|
2016
|
98 |
2 |
p. 396-397
2 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
98 |
2 |
p. 227-228
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2016
|
98 |
2 |
p. 225-226
2 p.
|
artikel
|
| 20 |
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
|
Jansen, Jos C.
|
|
2016
|
98 |
2 |
p. 322-330
9 p.
|
artikel
|
| 21 |
Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma
|
Cheng, Caixia
|
|
2016
|
98 |
2 |
p. 256-274
19 p.
|
artikel
|
| 22 |
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
|
Divisato, Giuseppina
|
|
2016
|
98 |
2 |
p. 275-286
12 p.
|
artikel
|
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