Clinical impact of splicing in neurodevelopmental disorders
نویسندگان
چکیده
منابع مشابه
Clinical genetics of neurodevelopmental disorders
CC-BY 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. Introduction " our incomplete studies do not permit actual classification; but it is better to leave things by themselves rather than to force them into classes which have their foundation only on paper " – Edouard Seguin 1 " The fundamental mi...
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Neurodevelopmental Disorders
The effective identification of neurodevelopmental disorders is essential for early diagnosis and provision of intervention services. For many of these conditions, one of the primary domains of abnormality is language development. This review addresses what is known about the earliest indicators of language impairment across a range of neurodevelopmental disorders; consideration is given to bot...
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Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than a million bases in size, and are likely to play a role in phenotypic diversity and evolution. Recent advances in the identification and mapping of CNVs among normal individuals and in model systems, using bioinformatics and hybridization-based methods, are beginning ...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2020
ISSN: 1756-994X
DOI: 10.1186/s13073-020-00737-2