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Clinical Genetics|November 4, 2016
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)C Neuhaus, R Lang-Roth, U Zimmermann, et al.
Genes|October 29, 2025
Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial VariabilityElisa A Mahler, Lars C Moeller, Katharina Wall, et al.
International Journal of Molecular Sciences|November 27, 2024
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal DiseaseClaudia S Priglinger, Maximilian J Gerhardt, Siegfried G Priglinger, et al.
American Journal of Ophthalmology Case Reports|March 19, 2025
Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGR mutationMarlene Saßmannshausen, Elisa A Mahler, Sandrine H Künzel, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 23, 2001
Semaphorin 3A-vascular endothelial growth factor-165 balance mediates migration and apoptosis of neural progenitor cells by the recruitment of shared receptorD Bagnard, C Vaillant, S T Khuth, et al.
Ophthalmology|June 17, 2015
Reticular Pseudodrusen in Sorsby Fundus DystrophyMartin Gliem, Philipp L Müller, Elisabeth Mangold, et al.
Investigative Ophthalmology & Visual Science|March 14, 2015
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment OutcomesMartin Gliem, Philipp L Müller, Elisabeth Mangold, et al.
Journal of Medical Genetics|April 10, 2009
GPR98 mutations cause Usher syndrome type 2 in malesI Ebermann, M H J Wiesen, E Zrenner, et al.
Scientific Reports|May 5, 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian PeninsulaArif O Khan, Elvir Becirovic, Christian Betz, et al.
Human Mutation|March 12, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al.
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