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European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1615 - 1626
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2019, Volume 95, Issue 5, pp. 607 - 614
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2019, Volume 96, Issue 6, pp. 493 - 505
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat‐Hall syndrome (CHS), Schaaf‐Yang syndrome (SYS) and Prader‐Willi syndrome (PWS). We present... 
MAGEL2 | Prader‐Willi syndrome locus | MAGEL2‐related disorder | Chitayat‐Hall syndrome | Schaaf‐Yang syndrome | Phenotypes | Genotypes | Prader-Willi syndrome locus | Chitayat-Hall syndrome | MAGEL2-related disorder | Schaaf-Yang syndrome
Journal Article
Human mutation, ISSN 1059-7794, 01/2020
ACTB encodes β-cytoplasmic actin, an essential component of the cytoskeleton. Based on chromosome 7p22.1 deletions that include the ACTB locus and on rare... 
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 2014, Volume 37, Issue 1, pp. 210 - 219
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated... 
Microdeletion | Chromosome rearrangement | Novel deletions | Novel duplications | Microduplication | microduplication | microdeletion | novel deletions | BIOCHEMISTRY & MOLECULAR BIOLOGY | novel duplications | GENETICS & HEREDITY | chromosome rearrangement | PHENOTYPE | PATIENT | DELETIONS | FEATURES | Review
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1950 - 1960
Journal Article
Revista Espanola de Cardiologia, ISSN 0300-8932, 07/2018, Volume 71, Issue 7, pp. 545 - 552
Introduction and objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous... 
Cardiac valvular dysplasia | X-linked disease | FLNA mutation
Journal Article
Genetics and Molecular Biology, ISSN 1678-4685, 2014, Volume 37, Issue 1 suppl 1, pp. 210 - 219
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Pediatric dermatology, ISSN 0736-8046, 02/2020
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor... 
Journal Article
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