Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 9
Results: 8
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases.
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- Human Genetics, 2018, v. 137, n. 9, p. 679, doi. 10.1007/s00439-018-1933-9
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- Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
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- Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
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- Article
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
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- Human Genetics, 2018, v. 137, n. 9, p. 735, doi. 10.1007/s00439-018-1928-6
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- Article
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.
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- Human Genetics, 2018, v. 137, n. 9, p. 723, doi. 10.1007/s00439-018-1927-7
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- Article
Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression.
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- Human Genetics, 2018, v. 137, n. 9, p. 717, doi. 10.1007/s00439-018-1925-9
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- Article
Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.
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- Human Genetics, 2018, v. 137, n. 9, p. 665, doi. 10.1007/s00439-018-1916-x
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- Article
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.
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- Human Genetics, 2018, v. 137, n. 9, p. 705, doi. 10.1007/s00439-018-1915-y
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- Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
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- Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
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- Article