| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
|
Izumi, Kosuke
|
|
2016
|
99 |
2 |
p. 451-459
9 p.
|
artikel
|
| 2 |
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
|
Dias, Cristina
|
|
2016
|
99 |
2 |
p. 253-274
22 p.
|
artikel
|
| 3 |
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
|
Kopajtich, Robert
|
|
2016
|
99 |
2 |
p. 414-422
9 p.
|
artikel
|
| 4 |
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
|
Li, Hongda
|
|
2016
|
99 |
2 |
p. 501-510
10 p.
|
artikel
|
| 5 |
Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus
|
Dai, James Y.
|
|
2016
|
99 |
2 |
p. 352-365
14 p.
|
artikel
|
| 6 |
Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis
|
Okada, Yukinori
|
|
2016
|
99 |
2 |
p. 366-374
9 p.
|
artikel
|
| 7 |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
|
Lindstrand, Anna
|
|
2016
|
99 |
2 |
p. 318-336
19 p.
|
artikel
|
| 8 |
Defining KIR and HLA Class I Genotypes at Highest Resolution via High-Throughput Sequencing
|
Norman, Paul J.
|
|
2016
|
99 |
2 |
p. 375-391
17 p.
|
artikel
|
| 9 |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
|
|
|
2016
|
99 |
2 |
p. 287-298
12 p.
|
artikel
|
| 10 |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
|
Adam, Ronja
|
|
2016
|
99 |
2 |
p. 337-351
15 p.
|
artikel
|
| 11 |
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
|
Lim, Young H.
|
|
2016
|
99 |
2 |
p. 443-450
8 p.
|
artikel
|
| 12 |
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
|
Le Goff, Carine
|
|
2016
|
99 |
2 |
p. 407-413
7 p.
|
artikel
|
| 13 |
Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk
|
Yang, Xinyu
|
|
2016
|
99 |
2 |
p. 275-286
12 p.
|
artikel
|
| 14 |
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
|
Coppieters, Frauke
|
|
2016
|
99 |
2 |
p. 470-480
11 p.
|
artikel
|
| 15 |
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
|
Cetinkaya, Arda
|
|
2016
|
99 |
2 |
p. 299-317
19 p.
|
artikel
|
| 16 |
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions
|
Pigors, Manuela
|
|
2016
|
99 |
2 |
p. 430-436
7 p.
|
artikel
|
| 17 |
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
|
Harding, Brian N.
|
|
2016
|
99 |
2 |
p. 511-520
10 p.
|
artikel
|
| 18 |
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
|
El Khouri, Elma
|
|
2016
|
99 |
2 |
p. 489-500
12 p.
|
artikel
|
| 19 |
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
|
Wade, Emma M.
|
|
2016
|
99 |
2 |
p. 392-406
15 p.
|
artikel
|
| 20 |
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
|
Hildebrand, Michael S.
|
|
2016
|
99 |
2 |
p. 423-429
7 p.
|
artikel
|
| 21 |
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
|
Tuschl, Karin
|
|
2016
|
99 |
2 |
p. 521-
1 p.
|
artikel
|
| 22 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
99 |
2 |
p. 251-252
2 p.
|
artikel
|
| 23 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2016
|
99 |
2 |
p. 249-250
2 p.
|
artikel
|
| 24 |
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
|
Patat, Olivier
|
|
2016
|
99 |
2 |
p. 437-442
6 p.
|
artikel
|
| 25 |
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
|
Wallmeier, Julia
|
|
2016
|
99 |
2 |
p. 460-469
10 p.
|
artikel
|
| 26 |
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis
|
Polfus, Linda M.
|
|
2016
|
99 |
2 |
p. 481-488
8 p.
|
artikel
|
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