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Bioinformatics (Oxford, England)|October 10, 2012
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palateHeide Fier, Sungho Won, Dmitry Prokopenko, 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.
Clinical Case Reports|September 15, 2018
Congenital diaphragmatic hernia in a case of Cat eye syndromeEbru Aileen Alsat, Heiko Reutter, Soyhan Bagci, et al.
The Journal of Molecular Diagnostics : JMD|October 28, 2004
Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistryAnnegret Müller, Giuseppe Giuffre, Tina Bocker Edmonston, et al.
Science Advances|May 4, 2019
p63 establishes epithelial enhancers at critical craniofacial development genesEnrique Lin-Shiao, Yemin Lan, Julia Welzenbach, et al.
Birth Defects Research|November 15, 2017
Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palateAnne C Böhmer, Lina Gölz, Thomas Kreusch, et al.
The Journal of Pathology|October 11, 2005
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 stainingElisabeth Mangold, Constanze Pagenstecher, Waltraut Friedl, et al.
The Journal of Molecular Diagnostics : JMD|February 7, 2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann, Stefanie Vogt, Siegfried Uhlhaas, et al.
Clinical & Experimental Ophthalmology|April 13, 2019
Genetic testing in patients with retinitis pigmentosa: Features of unsolved casesJohannes Birtel, Martin Gliem, Akio Oishi, et al.
European Journal of Oral Sciences|June 25, 2010
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patientsTiit Nikopensius, Stefanie Birnbaum, Kerstin U Ludwig, et al.
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