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Nonsense mutation

Analysis of Tp53 Codon 72 Polymorphisms, Tp53 Mutations, and HPV Infection in Cutaneous Squamous Cell Carcinomas

Keith R. Loeb, Maryam M. Asgari, [ ... ], Nancy B. Kiviat

High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

Xiaohong Gong, Yu-wu Jiang, [ ... ], Hongyan Wang

Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing

Marianne L. Voz, Wouter Coppieters, [ ... ], Bernard Peers

Response of Methicillin-Resistant Staphylococcus aureus to Amicoumacin A

Amrita Lama, Jan Pané-Farré, [ ... ], Michiko M. Nakano

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Nicolas Kalfa, Maki Fukami, [ ... ], Charles Sultan

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, [ ... ], Laura Bannach Jardim

Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients

Laura Breda, Carla Casu, [ ... ], Stefano Rivella

Prostate Cancer Risk Is not Altered by TP53AIP1 Germline Mutations in a German Case-Control Series

Manuel Luedeke, Irina Coinac, [ ... ], Christiane Maier

Genome Features of “Dark-Fly”, a Drosophila Line Reared Long-Term in a Dark Environment

Minako Izutsu, Jun Zhou, [ ... ], Naoyuki Fuse

Foxp2 Mutations Impair Auditory-Motor Association Learning

Simone Kurt, Simon E. Fisher, Günter Ehret

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Mei Hong Tan, Donna S. Mackay, [ ... ], Anthony T. Moore

Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Han Xie, Jingmin Wang, [ ... ], Yuwu Jiang

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Asli Sirmaci, Yvonne J. K. Edwards, Hatice Akay, Mustafa Tekin

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