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Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Fertility and Sterility, ISSN 0015-0282, 01/2019, Volume 111, Issue 1, pp. 24 - 29
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The... 
mutations | CAH | CYP21A2 | phenotype-genotype association | REPRODUCTIVE BIOLOGY | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
Journal Article
Experimental Eye Research, ISSN 0014-4835, 09/2019, Volume 186, p. 107720
Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular disorder. Among the various clinical phenotypes of this disease, retinal folds are... 
Familial exudative vitreoretinopathy | Phenotype-genotype correlation | Retinal folds | FZD4 | NORRIE DISEASE | MUTATION SPECTRUM | NDP GENE | PERSISTENT FETAL VASCULATURE | CLINICAL PRESENTATION | OPHTHALMOLOGY | LRP5 MUTATIONS | CHINESE PATIENTS | RETINAL FOLD
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2018, Volume 59, Issue 15, pp. 5726 - 5734
Journal Article
Nagoya Journal of Medical Science, ISSN 0027-7622, 05/2018, Volume 80, Issue 2, pp. 267 - 277
Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small... 
DSH | Dyschromatosis symmetrica hereditaria | Phenotype-genotype correlation | Freckle-like maculey | ADAR1 | Original Paper | dyschromatosis symmetrica hereditaria | freckle-like maculey | phenotype-genotype correlation
Journal Article
Journal Article