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Journal of Forensic and Legal Medicine|March 12, 2013
Statement on access to relevant medical and other health records and relevant legal records for forensic medical evaluations of alleged torture and other cruel, inhuman or degrading treatment or punishment, D Alempijevic, R Beriashvili, et al.
Journal of Medical Genetics|July 8, 2020
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing lossSuzanne E de Bruijn, Jeroen J Smits, Chang Liu, et al.
Human Molecular Genetics|November 24, 2012
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndromeMonique C M Balemans, Nael Nadif Kasri, Maksym V Kopanitsa, et al.
Cell Reports|November 9, 2017
The Role of Eif6 in Skeletal Muscle Homeostasis Revealed by Endurance Training Co-expression NetworksKim Clarke, Sara Ricciardi, Tim Pearson, et al.
Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.
American Journal of Human Genetics|November 6, 2012
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
Acta Neuropathologica|March 16, 2018
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic targetJohn R Apps, Gabriela Carreno, Jose Mario Gonzalez-Meljem, et al.
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