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Dominant traits

The Role of the Sedimentary Regime in Shaping the Distribution of Subtidal Sandbank Environments and the Associated Meiofaunal Nematode Communities: An Example from the Southern North Sea

Michaela Schratzberger, Piers Larcombe

Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies

Ming-Dong Wang, James Gomes, [ ... ], Daniel Krewski

PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

Miaoxin Li, Philip Wing-Lok Ho, [ ... ], Shu-Leong Ho

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

Xuchen Ding, Nan Zhou, [ ... ], Yanhua Qi

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Yali Zhao, Dayong Wang, [ ... ], Qiuju Wang

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

Byung Yoon Choi, Jiwoong Kim, [ ... ], Seung-Ha Oh

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis

Hidekane Yoshimura, Yutaka Takumi, [ ... ], Shin-ichi Usami

Whole-Exome Sequencing to Identify a Novel LMNA Gene Mutation Associated with Inherited Cardiac Conduction Disease

Chun-Chi Lai, Yung-Hsin Yeh, [ ... ], Lung-An Hsu

A Missense Mutation in CRYBB2 Leads to Progressive Congenital Membranous Cataract by Impacting the Solubility and Function of βB2-Crystallin

Weirong Chen, Xiaoyun Chen, [ ... ], for the study group of CCPMOH

Gene-level Integrated Metric of negative Selection (GIMS) Prioritizes Candidate Genes for Nephrotic Syndrome

Matthew G. Sampson, Christopher E. Gillies, [ ... ], Hyun Min Kang

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, [ ... ], Xiao-Jun Li

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

Paul Guéguen, Karen Rouault, [ ... ], Claude Férec

Environmental Influences on Mate Preferences as Assessed by a Scenario Manipulation Experiment

Daniele Marzoli, Francesco Moretto, [ ... ], Luca Tommasi

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