| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
|
Carvill, Gemma L.
|
|
2018
|
103 |
6 |
p. 1022-1029
|
artikel
|
| 2 |
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
|
Wambach, Jennifer A.
|
|
2018
|
103 |
6 |
p. 968-975
|
artikel
|
| 3 |
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
|
Stephen, Joshi
|
|
2018
|
103 |
6 |
p. 948-967
|
artikel
|
| 4 |
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
|
Tankard, Rick M.
|
|
2018
|
103 |
6 |
p. 858-873
|
artikel
|
| 5 |
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
|
Logan, Clare V.
|
|
2018
|
103 |
6 |
p. 1038-1044
|
artikel
|
| 6 |
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
|
Zhao, Xinyu
|
|
2018
|
103 |
6 |
p. 829-857
|
artikel
|
| 7 |
Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies
|
Nelson, Dominic
|
|
2018
|
103 |
6 |
p. 893-906
|
artikel
|
| 8 |
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
|
Manousaki, Despoina
|
|
2018
|
103 |
6 |
p. 1053
|
artikel
|
| 9 |
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
|
Dobyns, William B.
|
|
2018
|
103 |
6 |
p. 1009-1021
|
artikel
|
| 10 |
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
|
Turnpenny, Peter D.
|
|
2018
|
103 |
6 |
p. 1054-1055
|
artikel
|
| 11 |
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
|
Fassad, Mahmoud R.
|
|
2018
|
103 |
6 |
p. 984-994
|
artikel
|
| 12 |
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data
|
Brechtmann, Felix
|
|
2018
|
103 |
6 |
p. 907-917
|
artikel
|
| 13 |
Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons
|
McClymont, Sarah A.
|
|
2018
|
103 |
6 |
p. 874-892
|
artikel
|
| 14 |
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
|
Ng, Bobby G.
|
|
2018
|
103 |
6 |
p. 1030-1037
|
artikel
|
| 15 |
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
|
Loges, Niki T.
|
|
2018
|
103 |
6 |
p. 995-1008
|
artikel
|
| 16 |
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
|
Xu, Linda
|
|
2018
|
103 |
6 |
p. 976-983
|
artikel
|
| 17 |
The Genetic Ancestry of Modern Indus Valley Populations from Northwest India
|
Pathak, Ajai K.
|
|
2018
|
103 |
6 |
p. 918-929
|
artikel
|
| 18 |
The Genetic Landscape of Diamond-Blackfan Anemia
|
Ulirsch, Jacob C.
|
|
2018
|
103 |
6 |
p. 930-947
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2018
|
103 |
6 |
p. 827-828
|
artikel
|
| 20 |
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
|
de Brouwer, Arjan P.M.
|
|
2018
|
103 |
6 |
p. 1045-1052
|
artikel
|
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