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European Journal of Human Genetics, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 263 - 268
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 11, pp. 6876 - 6884
A-to-I RNA editing is apparently the most abundant post-transcriptional modification in primates. Virtually all editing sites reside within the repetitive Alu... 
ADENOSINE DEAMINASES | ELEMENTS | ABUNDANT | MESSENGER-RNA | ANTISENSE TRANSCRIPTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | RNA EDITING SITES | ACCURATE IDENTIFICATION | SENSE | REPEATS | BRAIN | Genome, Human | Exons | Introns | RNA Editing | Alu Elements | Humans | Computational Biology
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1443 - 1451
Reanalysis of exome sequencing data when results are negative may yield additional diagnoses. We sought to estimate the contribution of clinical geneticists to... 
phenotype | reevaluation | diagnostic yield | clinical exome | bioinformatics
Journal Article
Nature Communications, ISSN 2041-1723, 06/2014, Volume 5, Issue 1, p. 3966
Journal Article
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 11/2019, Volume 178, Issue 1, pp. 231 - 237
While the spectrum of germline mutations in BRCA1/2 genes in the Israeli Jewish population has been extensively studied, there is a paucity of data pertaining... 
Medicine & Public Health | Recurrent mutations | Oncology | Breast cancer | BRCA1 | Israeli Arabs | BRCA2 | Ovarian cancer | Cancer patients | Care and treatment | Algorithms | Gene mutations | Genetic aspects | Disease susceptibility | Health aspects | Risk factors
Journal Article
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2259 - 2275
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have... 
developmental disabilities | seizures | mastocytosis | hypotonia | whole exome sequencing | GNB1 | GENETICS & HEREDITY | SUBUNITS | GROSS MOTOR FUNCTION | Gene mutations | Genetic aspects | Seizures (Medicine) | Literature reviews | Genotype & phenotype | Mastocytosis | Phenotypes | Mosaicism | Dystonia | Mutation | Patients | Genotypes
Journal Article
Proteins: Structure, Function, and Bioinformatics, ISSN 0887-3585, 11/2014, Volume 82, Issue 11, pp. 3117 - 3131
Journal Article