| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3
|
Leslie, Elizabeth J.
|
|
2016
|
98 |
4 |
p. 744-754
11 p.
|
artikel
|
| 2 |
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
|
Diggle, Christine P.
|
|
2016
|
98 |
4 |
p. 735-743
9 p.
|
artikel
|
| 3 |
Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models
|
Chen, Han
|
|
2016
|
98 |
4 |
p. 653-666
14 p.
|
artikel
|
| 4 |
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
|
Rebelo, Adriana P.
|
|
2016
|
98 |
4 |
p. 597-614
18 p.
|
artikel
|
| 5 |
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
|
Mencacci, Niccolò E.
|
|
2016
|
98 |
4 |
p. 763-771
9 p.
|
artikel
|
| 6 |
DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis
|
Joubert, Bonnie R.
|
|
2016
|
98 |
4 |
p. 680-696
17 p.
|
artikel
|
| 7 |
Frequency and Complexity of De Novo Structural Mutation in Autism
|
Brandler, William M.
|
|
2016
|
98 |
4 |
p. 667-679
13 p.
|
artikel
|
| 8 |
Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis
|
Qin, Hai-De
|
|
2016
|
98 |
4 |
p. 709-727
19 p.
|
artikel
|
| 9 |
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
|
Kuschal, Christiane
|
|
2016
|
98 |
4 |
p. 627-642
16 p.
|
artikel
|
| 10 |
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx
|
Wang, Jiebiao
|
|
2016
|
98 |
4 |
p. 697-708
12 p.
|
artikel
|
| 11 |
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
|
Shaheen, Ranad
|
|
2016
|
98 |
4 |
p. 643-652
10 p.
|
artikel
|
| 12 |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
|
Bhoj, Elizabeth J.
|
|
2016
|
98 |
4 |
p. 782-788
7 p.
|
artikel
|
| 13 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
|
Makrythanasis, Periklis
|
|
2016
|
98 |
4 |
p. 615-626
12 p.
|
artikel
|
| 14 |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
|
Chong, Jessica X.
|
|
2016
|
98 |
4 |
p. 772-781
10 p.
|
artikel
|
| 15 |
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
|
Mangold, Elisabeth
|
|
2016
|
98 |
4 |
p. 755-762
8 p.
|
artikel
|
| 16 |
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
|
Ayturk, Ugur M.
|
|
2016
|
98 |
4 |
p. 789-795
7 p.
|
artikel
|
| 17 |
The Divergence of Neandertal and Modern Human Y Chromosomes
|
Mendez, Fernando L.
|
|
2016
|
98 |
4 |
p. 728-734
7 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
98 |
4 |
p. 595-596
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2016
|
98 |
4 |
p. 593-594
2 p.
|
artikel
|
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