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Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
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- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4272, doi. 10.1093/hmg/ddu144
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- Article
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01284-w
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- Article
P1‐129: CELL‐AUTONOMOUS AND EFFECTS OF NEURONAL BIN1 LOSS IN VIVO.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P285, doi. 10.1016/j.jalz.2019.06.684
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- Article
RNA in unexpected places: long non-coding RNA functions in diverse cellular contexts.
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- Nature Reviews Molecular Cell Biology, 2013, v. 14, n. 11, p. 699, doi. 10.1038/nrm3679
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- Article
Ordered Assembly of the Adhesive and Electrochemical Connections within Newly Formed Intercalated Disks in Primary Cultures of Adult Rat Cardiomyocytes.
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- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/624719
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- Article
Cell-autonomous and non-cell autonomous effects of neuronal BIN1 loss in vivo.
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- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0220125
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- Article
Obscurin, a giant muscle protein of the immunoglobulin superfamily: developmental expression and role in myofibril assembly.
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- FASEB Journal, 2007, v. 21, n. 5, p. A202
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- Article
Obscurin is required for the lateral alignment of striated myofibrils in zebrafish.
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- Developmental Dynamics, 2006, v. 235, n. 8, p. 2018
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- Article
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
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- Congenital Heart Disease, 2015, v. 10, n. 3, p. 193, doi. 10.1111/chd.12179
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- Article
Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52667-3
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- Article
Different obscurin isoforms localize to distinct sites at sarcomeres
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- FEBS Letters, 2007, v. 581, n. 8, p. 1549, doi. 10.1016/j.febslet.2007.03.011
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- Article