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American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
The Journal of Allergy and Clinical Immunology|April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitisJorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.
Frontiers in Genetics|August 4, 2022
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema GenesCarina M Mathey, Carlo Maj, Annika B Scheer, et al.
American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
Nature Genetics|March 10, 2009
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24Stefanie Birnbaum, Kerstin U Ludwig, Heiko Reutter, et al.
Human Molecular Genetics|May 24, 2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladderHeiko Reutter, Markus Draaken, Tracie Pennimpede, et al.
Plos One|January 1, 2020
Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association dataJulia Schröder, Vitalia Schüller, Andrea May, et al.
Nature Genetics|August 7, 2012
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk lociKerstin U Ludwig, Elisabeth Mangold, Stefan Herms, et al.
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