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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 18 - 24
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1306 - 1311
Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in... 
ACETYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | HUMANS | DISORDERS | MUTATIONS | SCHINZEL-GIEDION SYNDROME | Mental retardation | Variegation | Set gene
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 08/2017, Volume 19, Issue 8, pp. 921 - 925
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 08/2016, Volume 114, Issue 4, pp. e228 - e232
Journal Article