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                             17 results found
no title author magazine year volume issue page(s) type
1 Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment Powers, Natalie R.
2014
94 5 p. 798-
1 p.
article
2 AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking Setta-Kaffetzi, Niovi
2014
94 5 p. 790-797
8 p.
article
3 Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy Sergouniotis, Panagiotis I.
2014
94 5 p. 760-769
10 p.
article
4 Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Pinto, Dalila
2014
94 5 p. 677-694
18 p.
article
5 De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Xia, Fan
2014
94 5 p. 784-789
6 p.
article
6 Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature Ordulu, Zehra
2014
94 5 p. 695-709
15 p.
article
7 Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans Humbert, Camille
2014
94 5 p. 799-
1 p.
article
8 Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion Duggan, Ana T.
2014
94 5 p. 721-733
13 p.
article
9 Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies Aschard, Hugues
2014
94 5 p. 662-676
15 p.
article
10 Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Vulto-van Silfhout, Anneke T.
2014
94 5 p. 649-661
13 p.
article
11 Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome Patel, Nisha
2014
94 5 p. 755-759
5 p.
article
12 Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 McMillin, Margaret J.
2014
94 5 p. 734-744
11 p.
article
13 Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome Lindstrand, Anna
2014
94 5 p. 745-754
10 p.
article
14 Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland Wang, Sophie R.
2014
94 5 p. 710-720
11 p.
article
15 This Month in Genetics Garber, Kathryn B.
2014
94 5 p. 647-648
2 p.
article
16 This Month in The Journal Ratzel, Sarah
2014
94 5 p. 645-646
2 p.
article
17 Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data Wang, Gao T.
2014
94 5 p. 770-783
14 p.
article
                             17 results found
 
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