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Human Mutation, ISSN 1059-7794, 12/2014, Volume 35, Issue 12, pp. 1436 - 1441
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 343 - 350
Journal Article
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
Genetics and Molecular Biology, ISSN 1415-4757, 2014, Volume 37, Issue 1, pp. 241 - 249
The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management,... 
Developmental syndrome | Cancer predisposition | NGS | New technologies | developmental syndrome | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | new technologies | cancer predisposition | TUMORIGENESIS | Review
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 in Medicine, ISSN 1098-3600, 08/2018, Volume 20, Issue 8, pp. 882 - 889
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2740 - 2749
Journal Article