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                             24 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts? Fish, Alexandra E.
 2016
 99 4 p. 817-830
14 p.
 artikel
2 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans Vetrini, Francesco
 2016
 99 4 p. 886-893
8 p.
 artikel
3 Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Flex, Elisabetta
 2016
 99 4 p. 962-973
12 p.
 artikel
4 Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome Zhu, Fuxi
 2016
 99 4 p. 942-949
8 p.
 artikel
5 Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy Miyake, Noriko
 2016
 99 4 p. 950-961
12 p.
 artikel
6 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Weiss, Karin
 2016
 99 4 p. 934-941
8 p.
 artikel
7 De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype Shashi, Vandana
 2016
 99 4 p. 991-999
9 p.
 artikel
8 Dorothy Warburton (1936–2016) Hassold, Terry
 2016
 99 4 p. 1000-
1 p.
 artikel
9 Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation Ghoussaini, Maya
 2016
 99 4 p. 903-911
9 p.
 artikel
10 GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Li, Dong
 2016
 99 4 p. 802-816
15 p.
 artikel
11 Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project Auer, Paul L.
 2016
 99 4 p. 791-801
11 p.
 artikel
12 GWIS: Genome-Wide Inferred Statistics for Functions of Multiple Phenotypes Nieuwboer, Harold A.
 2016
 99 4 p. 917-927
11 p.
 artikel
13 Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees Sul, Jae Hoon
 2016
 99 4 p. 846-859
14 p.
 artikel
14 Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis Maluenda, Jérôme
 2016
 99 4 p. 928-933
6 p.
 artikel
15 Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Johansen, Anide
 2016
 99 4 p. 912-916
5 p.
 artikel
16 Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus Li, Na
 2016
 99 4 p. 1000-
1 p.
 artikel
17 Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta Parry, David A.
 2016
 99 4 p. 984-990
7 p.
 artikel
18 NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Kremer, Laura S.
 2016
 99 4 p. 894-902
9 p.
 artikel
19 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes Harel, Tamar
 2016
 99 4 p. 831-845
15 p.
 artikel
20 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Thompson, Kyle
 2016
 99 4 p. 860-876
17 p.
 artikel
21 REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants Ioannidis, Nilah M.
 2016
 99 4 p. 877-885
9 p.
 artikel
22 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Sferra, Antonella
 2016
 99 4 p. 974-983
10 p.
 artikel
23 This Month in Genetics Garber, Kathryn B.
 2016
 99 4 p. 789-790
2 p.
 artikel
24 This Month in The Journal Ratzel, Sarah
 2016
 99 4 p. 787-788
2 p.
 artikel
                             24 gevonden resultaten
 
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