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Dermatology online journal, 03/2019, Volume 25, Issue 3
Grover disease (GD) is a disorder of unknown origin, clinically characterized by the occurrence of pruritic, erythematous or brownish papules and... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2013, p. n/a
Journal Article
Radiotherapy and Oncology, ISSN 0167-8140, 2014, Volume 111, Issue 2, pp. 178 - 185
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 08/2018, Volume 18, Issue 2, pp. 1623 - 1627
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each... 
PAX6 | Aniridia | MEDICINE, RESEARCH & EXPERIMENTAL | DEFECTS | GENE | ONCOLOGY | CRYSTAL-STRUCTURE | DNA | SPECTRUM | PITX2 | aniridia | HAPLOINSUFFICIENCY | Care and treatment | Gene mutations | Molecular diagnostic techniques | Innovations | Development and progression | Genetic aspects | Health aspects | Cataracts | Glaucoma | Phenotypes | Optic nerve | Copy number | Genes | Patients | Pax6 protein | Proteins | Genetic counseling | Nystagmus | Mutation | Ultrasound
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2015, Volume 167, Issue 3, pp. 664 - 669
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e105501 - e105501
Journal Article
Journal Article
Biomedical Reports, ISSN 2049-9434, 02/2016, Volume 4, Issue 2, pp. 215 - 218
Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID).... 
Exome | Intellectual disability | Microcephaly | HCFC1
Journal Article
International Journal of Radiation Oncology, Biology, Physics, ISSN 0360-3016, 2012, Volume 82, Issue 3, pp. 1065 - 1074
Journal Article
by Devinsky, Orrin and Rapaport, Mark H and Castellotti, Barbara and Kluger, Gerhard and McQuillin, Andrew and Rees, Mark I and Mountier, Emily and Zsurka, Gabor and Stipa, Carlotta and Bauer, Jurgen and Salpietro, Vincenzo and Krause, Roland and French, Jacqueline A and Guerrini, Renzo and Kousiappa, Ioanna and Palotie, Aarno and Cotsapas, Chris and Manna, Lorella and Cossette, Patrick and Tinuper, Paolo and Bennett, Caitlin A and Hakonarson, Hakon and Inoue, Yushi and Muhle, Hiltrud and Piras, Federica and Lander, Eric S and Stanley, Kate E and Blatt, Ilan and Freyer, Catharine and Bromet, Evelyn J and Byrnes, Andrea and Braatz, Vera and van Baalen, Andreas and Suzuki, Toshimitsu and Pato, Michele T and Kurlemann, Gerhard and Franceschetti, Silvana and Piras, Fabrizio and Hegde, Manu and Todaro, Marian and Dennig, Dieter and Knake, Susanne and Privitera, Michael and Madia, Francesca and Mo, Kelly and Iacomino, Michele and Tanteles, George A and Gabriel, Stacey B and Rosenow, Felix and Ugur-Iseri, Sibel and Chung, Seo-Kyung and Schneider, Natascha and Delanty, Norman and Churchhouse, Claire and Shilling, Hannah and Rademacher, Annika and Helbig, Katherine L and Buono, Russell J and Bisulli, Francesca and Arslan, Mutluay and Schreiber, Herbert and Yamakawa, Kazuhiro and Berkovic, Samuel F and Sterbova, Katalin and Lal, Dennis and King, Chontelle and Canavati, Christina and Lui, Colin H.T and Sadoway, Tara R and Wolking, Stefan and Sham, Pak C and Hausler, Martin and Andrade, Danielle M and Sills, Graeme J and Borggrafe, Ingo and Baykan, Betul and Leu, Costin and Dlugos, Dennis J and Krestel, Heinz and Krey, Ilona and Schulze-Bonhage, Andreas and Kesim, Yesim and Baum, Larry W and Stamberger, Hannah and Gallati, Sabina and Pato, Carlos N and Mancardi, Maria Margherita and Cherny, Stacey S and McCarroll, Steven A and Pendziwiat, Manuela and Marini, Carla and Granata, Tiziana and Gili, Tommaso and Madeleyn, Rene and Weckhuysen, Dorien and Hengsbach, Christian and Regan, Brigid M and Elger, Christian E and Lemke, Johannes R and Kuzniecky, Ruben I and ...
American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, p. 267
Epi25 Collaborative (*) Keywords epilepsy; seizures; epileptic encephalopathy; exome; sequencing; burden analysis Sequencing-based studies have identified... 
Journal Article
Journal Article
Journal of Genetics, ISSN 0022-1333, 6/2018, Volume 97, Issue 2, pp. 555 - 562
Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the... 
Life Sciences | Life Sciences, general | Plant Genetics and Genomics | Microbial Genetics and Genomics | Evolutionary Biology | aniridia | PAX6 deletion | Animal Genetics and Genomics | array-CGH | multiplex ligation-dependent probe amplification
Journal Article
Journal of Genetics, ISSN 0022-1333, 06/2018, Volume 97, Issue 2, pp. 555 - 562
Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the... 
Hypoplasia | Literature reviews | Pax6 protein | Enhancers | Clonal deletion | Congenital defects | Aniridia | Heredity | Mutation
Journal Article
Journal of Genetics, ISSN 0022-1333, 12/2016, Volume 95, Issue 4, pp. 761 - 766
Journal Article