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JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 09/2018, Volume 10, Issue 3, pp. 206 - 215
Journal Article
Mechanisms of Development, ISSN 0925-4773, 07/2017, Volume 145, pp. S32 - S32
Journal Article
Nature, ISSN 0028-0836, 05/2018, Volume 557, Issue 7706, pp. 564 - 569
Journal Article
Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 05/2019, Volume 56, Issue 5, pp. 332 - 339
Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little... 
EYE | PATTERN-FORMATION | MIDBRAIN | ELEGANS | GENETICS & HEREDITY | scrotal | MAB21L1 | labial aplasia | pontocerebellar hypoplasia | Cerebello-Oculo-Facio-genital (COFG) syndrome | corneal dystrophy | 1506 | Developmental Defects
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 10/2014, Volume 9, Issue 3, pp. 290 - 291
  Dear Sir, Dystrophinopathies are diseases that affect skeletal muscles and are caused by mutations of the dystrophin gene at locus Xp21, with Duchenne... 
Case studies | Duchenne muscular dystrophy | X chromosome | Physiological aspects | Genetic aspects | Diagnosis | Risk factors | Genotype & phenotype | Mutation | Females | Chromosomes | Rodents | Muscular dystrophy | Letters to the Editor
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2016, Volume 53, Issue 9, pp. 608 - 615
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 187 - 193
The blepharophimosis-mental retardation syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes,... 
UBE3B | Kaufman oculocerebrofacial syndrome | blepharophimosis | intellectual disability | MENTAL-RETARDATION | PHENOTYPE | EPICANTHUS INVERSUS SYNDROME | INTERSTITIAL DELETION | DELINEATION | GENE | GENETICS & HEREDITY | ENDE-GUPTA-SYNDROME | SPECTRUM | Genetic aspects | Birth defects | Genetic disorders | Mental illness | Blepharophimosis | Microencephaly | Mutation | Congenital defects
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 3, pp. 457 - 464
Journal Article