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1دورية أكاديمية
المصدر: Cardiogenetics, Vol 10, Iss 1 (2020)
مصطلحات موضوعية: 3p deletion, GPD1L gene, Brugada syndrome., Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
مصطلحات موضوعية: Costeff optic atrophy syndrome, Extrapyramidal dysfunction, 3-Methyl glutaconic aciduria, Mitochondrial pathology, OPA3, Optic atrophy plus syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Brad Angle, Rotem Ben-Shachar, Gabriel A. Lazarin, Allison L. Goetsch, Katherine Johansen Taber, Jeanine Schulze, Jodi D. Hoffman, Aishwarya Arjunan, Jennifer Tarpinian, Pilar L. Magoulas, Richard Dineen, Raul Torres, Holly Bellerose, Andrea M. Lewis, Jessica A Bucher, Robert Nathan Slotnick, Kelly Bontempo, Brittany N. Simpson
المصدر: Prenatal Diagnosis
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genetic counseling, Genetic Counseling, Disease, macromolecular substances, Severity of Illness Index, Congenital Abnormalities, Young Adult, Disease severity, Pregnancy, Internal medicine, Prenatal Diagnosis, medicine, Humans, Genetic Predisposition to Disease, Genes, Developmental, Child, Gene, Genetics (clinical), Panel design, business.industry, musculoskeletal, neural, and ocular physiology, Genetic Carrier Screening, Genetic Diseases, Inborn, Infant, Newborn, Obstetrics and Gynecology, Infant, Original Articles, Data availability, nervous system, Child, Preschool, Practice Guidelines as Topic, Severity Criteria, Original Article, Female, Carrier screening, business, Algorithms
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4
المؤلفون: Karen Schmitz, Marc Rosenbaum, Richard Dineen, Jessica Stoll, Priscila D. Hodges, Melissa Hsu
المصدر: Journal of Genetic Counseling. 29:352-364
مصطلحات موضوعية: Adult, Male, media_common.quotation_subject, Genetic counseling, Genetic Counseling, computer.software_genre, Grounded theory, 03 medical and health sciences, 0302 clinical medicine, Cultural diversity, Humans, Cultural Competency, Genetics (clinical), media_common, 0303 health sciences, Medical education, Communication Barriers, 030305 genetics & heredity, Professional development, Translating, 030220 oncology & carcinogenesis, Limited English proficiency, Female, Psychology, Cultural competence, computer, Interpreter, Diversity (politics)
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المؤلفون: Laura Owczarzak, Kelsey Hogan, Richard Dineen, Mindy Li, Chandler Gill
المصدر: Genetics in Medicine. 24:S124-S125
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::131c48f3e7b9c1e676d6bddb21827875
https://doi.org/10.1016/j.gim.2022.01.238 -
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المصدر: Cardiogenetics, Vol 10, Iss 1 (2020)
Cardiogenetics
Volume 10
Issue 1مصطلحات موضوعية: Pathology, medicine.medical_specialty, lcsh:Diseases of the circulatory (Cardiovascular) system, Single umbilical artery, business.industry, Chromosome, GPD1L gene, Disease, medicine.disease, Penetrance, Rectovaginal fistula, lcsh:RC666-701, medicine, General Earth and Planetary Sciences, 3p deletion, Brugada syndrome, Imperforate anus, business, Gene, General Environmental Science
وصف الملف: application/pdf
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7
المؤلفون: Alica M. Goldman, Frédéric Tran Mau-Them, Bertrand Isidor, Francesca Mattioli, Gaëlle Hayot, Piton Amélie, Jérémie Courraud, Jamel Chelly, Sarah Grotto, Ganka Douglas, Aida Telegrafi, Alicia Boughton, Sébastien Moutton, Mandel Jean-Louis, Christelle Golzio, Zohra Shad, Nathalie Drouot, Chantal Sellier, Yue Cindy Si, Elisabeth Kaplan, Sophie Nambot, Nolwenn Jean, Paul C. Van Ness, Candace Gamble, Angélique Quartier, Nicolas Charlet, Richard Dineen, Maria-Victoria Hinckelmann
مصطلحات موضوعية: Genetics, 0303 health sciences, Ataxia, NOVA2 Gene, Alternative splicing, Biology, Hypotonia, Frameshift mutation, 03 medical and health sciences, Splicing factor, 0302 clinical medicine, RNA splicing, medicine, medicine.symptom, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf674ff54b8fa38dfb10abe924f0e2b
https://doi.org/10.1101/858696 -
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المصدر: Journal of Genetic Counseling. 24:452-463
مصطلحات موضوعية: Male, Parents, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Genetic counseling, MEDLINE, Pilot Projects, Health knowledge, Infant, Newborn, Diseases, Young Adult, Neonatal Screening, Rare Diseases, Surveys and Questionnaires, Humans, Medicine, Genetics (clinical), Whole genome sequencing, Response rate (survey), Genetics, Newborn screening, Genome, Human, business.industry, Infant, Newborn, Infant, Sequence Analysis, DNA, Human genetics, Medical genetics, Female, business
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المؤلفون: Richard Dineen, Lynne A. Wolfe, Linda K. Gallo, Heidi Dorward, William A. Gahl, George E. Hoganson, Marjan Huizing, Carla Ciccone, Christina Lam
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)مصطلحات موضوعية: Optic atrophy plus syndrome, Pathology, medicine.medical_specialty, 3-MGA-uria, 3-methylglutaconic aciduria, OPA3, Compound heterozygosity, Exon, Endocrinology, Atrophy, Genetics, medicine, Spasticity, Allele, Sibling, lcsh:QH301-705.5, Molecular Biology, 3-MGR, 3-methylglutaric acid, Costeff optic atrophy syndrome, lcsh:R5-920, 3-Methyl glutaconic aciduria, 3-MGA, 3-methylglutaconic acid, business.industry, Intron, 3-Methylglutaconic Aciduria, Mitochondrial pathology, medicine.disease, lcsh:Biology (General), Extrapyramidal dysfunction, medicine.symptom, lcsh:Medicine (General), business, MRI, magnetic resonance imaging, Research Paper
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10
المؤلفون: David W. Russell, Kevin J. McCarthy, Robert D. Steiner, David R. Eyre, Barbara K. Burton, Catharine J. Harris, Richard Dineen, Brad Angle, Michael D. Sussman, Katherine H. Kim, Ulrike Schwarze, Melanie Pepin, Dru F. Leistritz, Peter H. Byers, MaryAnn Weis, Shawna M. Pyott, Helena E. Christiansen
المصدر: Human Molecular Genetics. 20:1595-1609
مصطلحات موضوعية: medicine.disease_cause, Cyclophilins, Femur, Child, Protein disulfide-isomerase, Cells, Cultured, Genetics (clinical), Sequence Deletion, Extracellular Matrix Proteins, Mutation, Membrane Glycoproteins, Protein Stability, Articles, General Medicine, Osteogenesis Imperfecta, Pedigree, Phenotype, Proline-Rich Protein Domains, Proteoglycans, Procollagen-proline dioxygenase, Procollagen, Adolescent, Proline, Molecular Sequence Data, Procollagen-Proline Dioxygenase, Protein Disulfide-Isomerases, Ribs, Biology, Hydroxylation, Collagen Type I, Prolyl Hydroxylases, Genetics, medicine, Humans, Amino Acid Sequence, Protein precursor, Molecular Biology, Peptidylprolyl isomerase, Base Sequence, Skull, Infant, Newborn, Infant, Fibroblasts, Molecular biology, Radiography, Procollagen peptidase, PPIB, Cis-trans-Isomerases, Protein Processing, Post-Translational, Molecular Chaperones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ca98bb394bc57dd814162f1602561b
https://doi.org/10.1093/hmg/ddr037