| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allele-Specific Methylome and Transcriptome Analysis Reveals Widespread Imprinting in the Human Placenta
|
Hamada, Hirotaka
|
|
2016
|
99 |
5 |
p. 1045-1058
14 p.
|
artikel
|
| 2 |
An Ancient Fecundability-Associated Polymorphism Switches a Repressor into an Enhancer of Endometrial TAP2 Expression
|
Mika, Katelyn M.
|
|
2016
|
99 |
5 |
p. 1059-1071
13 p.
|
artikel
|
| 3 |
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
|
Bello, Luca
|
|
2016
|
99 |
5 |
p. 1163-1171
9 p.
|
artikel
|
| 4 |
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
|
Delle Vedove, Andrea
|
|
2016
|
99 |
5 |
p. 1206-1216
11 p.
|
artikel
|
| 5 |
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
|
Jerber, Julie
|
|
2016
|
99 |
5 |
p. 1181-1189
9 p.
|
artikel
|
| 6 |
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
|
Namburi, Prasanthi
|
|
2016
|
99 |
5 |
p. 1222-1223
2 p.
|
artikel
|
| 7 |
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing
|
Royer-Bertrand, Beryl
|
|
2016
|
99 |
5 |
p. 1190-1198
9 p.
|
artikel
|
| 8 |
Evolution of Cell-to-Cell Variability in Stochastic, Controlled, Heteroplasmic mtDNA Populations
|
Johnston, Iain G.
|
|
2016
|
99 |
5 |
p. 1150-1162
13 p.
|
artikel
|
| 9 |
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism
|
Guan, Bin
|
|
2016
|
99 |
5 |
p. 1034-1044
11 p.
|
artikel
|
| 10 |
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
|
Kurolap, Alina
|
|
2016
|
99 |
5 |
p. 1172-1180
9 p.
|
artikel
|
| 11 |
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant
|
Di Donato, Nataliya
|
|
2016
|
99 |
5 |
p. 1117-1129
13 p.
|
artikel
|
| 12 |
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
|
Kapferer-Seebacher, Ines
|
|
2016
|
99 |
5 |
p. 1005-1014
10 p.
|
artikel
|
| 13 |
Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure
|
Galinsky, Kevin J.
|
|
2016
|
99 |
5 |
p. 1130-1139
10 p.
|
artikel
|
| 14 |
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
|
Garber, Kathryn B.
|
|
2016
|
99 |
5 |
p. 1140-1149
10 p.
|
artikel
|
| 15 |
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
|
Seymen, Figen
|
|
2016
|
99 |
5 |
p. 1199-1205
7 p.
|
artikel
|
| 16 |
Response to Shen et al.
|
Galinsky, Kevin J.
|
|
2016
|
99 |
5 |
p. 1220-1221
2 p.
|
artikel
|
| 17 |
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population
|
Zhou, Sirui
|
|
2016
|
99 |
5 |
p. 1072-1085
14 p.
|
artikel
|
| 18 |
Robust Inference of Identity by Descent from Exome-Sequencing Data
|
Fu, Wenqing
|
|
2016
|
99 |
5 |
p. 1106-1116
11 p.
|
artikel
|
| 19 |
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
|
Ordulu, Zehra
|
|
2016
|
99 |
5 |
p. 1015-1033
19 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
99 |
5 |
p. 1003-1004
2 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2016
|
99 |
5 |
p. 1001-1002
2 p.
|
artikel
|
| 22 |
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
|
O’Grady, Gina L.
|
|
2016
|
99 |
5 |
p. 1086-1105
20 p.
|
artikel
|
| 23 |
Was ADH1B under Selection in European Populations?
|
Shen, Quan-Kuan
|
|
2016
|
99 |
5 |
p. 1217-1219
3 p.
|
artikel
|
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