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                             20 results found
no title author magazine year volume issue page(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
article
2 Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome Wambach, Jennifer A.
2018
103 6 p. 968-975
article
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
article
4 Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data Tankard, Rick M.
2018
103 6 p. 858-873
article
5 DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Logan, Clare V.
2018
103 6 p. 1038-1044
article
6 Human Models Are Needed for Studying Human Neurodevelopmental Disorders Zhao, Xinyu
2018
103 6 p. 829-857
article
7 Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies Nelson, Dominic
2018
103 6 p. 893-906
article
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
article
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
article
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
article
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
article
12 OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data Brechtmann, Felix
2018
103 6 p. 907-917
article
13 Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons McClymont, Sarah A.
2018
103 6 p. 874-892
article
14 Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation Ng, Bobby G.
2018
103 6 p. 1030-1037
article
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
article
16 Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome Xu, Linda
2018
103 6 p. 976-983
article
17 The Genetic Ancestry of Modern Indus Valley Populations from Northwest India Pathak, Ajai K.
2018
103 6 p. 918-929
article
18 The Genetic Landscape of Diamond-Blackfan Anemia Ulirsch, Jacob C.
2018
103 6 p. 930-947
article
19 This Month in The Journal Ratzel, Sarah
2018
103 6 p. 827-828
article
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
article
                             20 results found
 
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