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Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 822 - 826
Okamoto syndrome is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac... 
Okamoto syndrome | Au–Kline syndrome | HNRNPK | KABUKI-LIKE SYNDROME | Au-Kline syndrome | GENETICS & HEREDITY | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Ribonucleoprotein K | Splicing | Stenosis
Journal Article
Journal Article
Journal Article
Pediatric Hematology/Oncology and Immunopathology, ISSN 1726-1708, 2017, Volume 16, Issue 4, pp. 75 - 83
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 12/2017, Volume 8, p. 210
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear... 
CHARGE syndrome | KMT2D | Kabuki syndrome | Phenotypic overlap | CHD7 | MLL2 | CHD7 MUTATION | ANOMALIES | PHENOTYPIC SPECTRUM | DEFICIENCY | COLOBOMA | CHOANAL ATRESIA | phenotypic overlap | GENETICS & HEREDITY | OVERLAP | KALLMANN-SYNDROME | PATIENT | Genetic research | Health aspects | Genetic aspects
Journal Article
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 12/2018, Volume 28, Issue 12, pp. 574 - 578
Congenital heart disease affects around 0.7% of liveborn infants and is the most frequent cause of death from congenital malformations. This review will... 
marfan syndrome | noonan syndrome | Alagille syndrome | trisomy 21 | Down syndrome | 22q11 deletion | Turner syndrome | Holt-Oram syndrome | Williams syndrome | Loeys-Dietz syndrome | CHARGE syndrome | congenital heart disease | Kabuki syndrome | Genetic disorders | Research | Comorbidity | Heart diseases | Analysis | Patient outcomes
Journal Article