| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly
|
Kruszka, Paul
|
|
|
104 |
5 |
p. 990-993
|
artikel
|
| 2 |
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
|
De Franco, Elisa
|
|
|
104 |
5 |
p. 985-989
|
artikel
|
| 3 |
A Transient Pulse of Genetic Admixture from the Crusaders in the Near East Identified from Ancient Genome Sequences
|
Haber, Marc
|
|
|
104 |
5 |
p. 977-984
|
artikel
|
| 4 |
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
|
Guo, Long
|
|
|
104 |
5 |
p. 925-935
|
artikel
|
| 5 |
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
|
Gorman, Kathleen M.
|
|
|
104 |
5 |
p. 948-956
|
artikel
|
| 6 |
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
|
Labelle-Dumais, Cassandre
|
|
|
104 |
5 |
p. 847-860
|
artikel
|
| 7 |
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer
|
Smith, Iris Nira
|
|
|
104 |
5 |
p. 861-878
|
artikel
|
| 8 |
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
|
Van Esch, Hilde
|
|
|
104 |
5 |
p. 957-967
|
artikel
|
| 9 |
Disease-Associated Genetic Variation in Human Mitochondrial Protein Import
|
Nicolas, Emmanuelle
|
|
|
104 |
5 |
p. 784-801
|
artikel
|
| 10 |
Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies
|
Li, Zilin
|
|
|
104 |
5 |
p. 802-814
|
artikel
|
| 11 |
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
|
Gonorazky, Hernan D.
|
|
|
104 |
5 |
p. 1007
|
artikel
|
| 12 |
Genes with High Network Connectivity Are Enriched for Disease Heritability
|
Kim, Samuel S.
|
|
|
104 |
5 |
p. 896-913
|
artikel
|
| 13 |
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
|
Oosterhof, Nynke
|
|
|
104 |
5 |
p. 936-947
|
artikel
|
| 14 |
IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors
|
Amariuta, Tiffany
|
|
|
104 |
5 |
p. 879-895
|
artikel
|
| 15 |
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
|
Bell, Scott
|
|
|
104 |
5 |
p. 815-834
|
artikel
|
| 16 |
Pathogenic Variants in GPC4 Cause Keipert Syndrome
|
Amor, David J.
|
|
|
104 |
5 |
p. 914-924
|
artikel
|
| 17 |
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
|
Kolvenbach, Caroline M.
|
|
|
104 |
5 |
p. 994-1006
|
artikel
|
| 18 |
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
|
Remacha, Laura
|
|
|
104 |
5 |
p. 1008-1010
|
artikel
|
| 19 |
Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms
|
Karasozen, Yigit
|
|
|
104 |
5 |
p. 968-976
|
artikel
|
| 20 |
The Convergence of Research and Clinical Genomics
|
Birney, Ewan
|
|
|
104 |
5 |
p. 781-783
|
artikel
|
| 21 |
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
|
Radenkovic, Silvia
|
|
|
104 |
5 |
p. 835-846
|
artikel
|
| 22 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
104 |
5 |
p. 779-780
|
artikel
|
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