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American Journal of Medical Genetics. Part A|January 6, 2005
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal formAndreas R Janecke, Hans Christian Hennies, Barbara Günther, et al.
Human Genetics|August 22, 2002
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in AustriaAndreas R Janecke, Almut Hirst-Stadlmann, Barbara Günther, et al.
European Journal of Pediatrics|December 3, 2014
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophyJulia Vodopiutz, Maria T Schmook, Vassiliki Konstantopoulou, et al.
American Journal of Medical Genetics. Part A|October 21, 2009
"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotypeVera Grossmann, Doris Müller, Wilfried Müller, et al.
Investigative Ophthalmology & Visual Science|March 29, 2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutationsAndreas Schuster, Andreas R Janecke, Robert Wilke, et al.
American Journal of Ophthalmology|February 24, 2006
A new, X-linked endothelial corneal dystrophyEduard Schmid, Walter Lisch, Wolfgang Philipp, et al.
Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, et al.
European Journal of Medical Research|March 4, 2018
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikelyChristian Niederwanger, Silvia Lechner, Lisa König, et al.
Pediatrics and Neonatology|July 31, 2021
Early onset congenital diarrheas; single center experienceMurat Cakir, Elif Sag, Burcu Guven, et al.
Children (Basel, Switzerland)|July 2, 2021
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three FamiliesHasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, et al.
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