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المؤلفون: Gisele Pino, Meghan Strenk, Dimitar Gavrilov, Amy L. White, Sara Minnich, Dawn Peck, Jennifer L. Gannon, Piero Rinaldo, Anna Dennis, Bryce A. Heese, Sarah Viall, Devin Oglesbee, Esperanza Font-Montgomery, Silvia Tortorelli, Dietrich Matern, April Studinski, Kimiyo Raymond, Randi Gadea, Austin Hamm
المصدر: Molecular Genetics and Metabolism. 132:S20
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry, Fabry disease
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المؤلفون: Meghan Strenk, Dawn Peck, Dimitar Gavrilov, Dietrich Matern, Piero Rinaldo, Esperanza Font-Montgomery, Jennifer L. Gannon, Devin Oglesbee, Tracy Klug, Amy L. White, Bryce A. Heese, Silvia Tortorelli, April Studinski, Jennifer Burton, Gisele Pino, Kimiyo Raymond, Randi Gadea, George E. Hoganson
المصدر: Molecular Genetics and Metabolism. 132:S23
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Newborn screening, business.industry, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Internal medicine, Genetics, Medicine, Biomarker (medicine), Mucopolysaccharidosis type II, business, Molecular Biology
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3
المؤلفون: Moshe Y. Prero, Meghan Strenk, Jonathan M. Fanaroff, Jeremy R. Garrett, Ann Kessler, John D. Lantos
المصدر: Pediatrics. 143
مصطلحات موضوعية: Male, Incidental Findings, Truth Disclosure, medicine.diagnostic_test, business.industry, Genetic counseling, Infant, Newborn, Genetic Counseling, Paternity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Claudin-1, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, Genetic Testing, business, Social psychology, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6053e0e1803598f2ba20e417f49a9390
https://doi.org/10.1542/peds.2018-3899 -
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المؤلفون: Brett H. Graham, Edward J. Lose, Qin Sun, William J. Craigen, James B. Gibson, Lindsay C. Burrage, Marcus J. Miller, Victor Wei Zhang, Meghan Strenk, Lee-Jun C. Wong, Sarah H. Elsea, David P. Bick, V. Reid Sutton
المصدر: Molecular Genetics and Metabolism. 116:139-145
مصطلحات موضوعية: Male, Mitochondrial Diseases, Genotype, Endocrinology, Diabetes and Metabolism, Population, Mutation, Missense, Biology, Bioinformatics, Biochemistry, Article, Lipid Metabolism, Inborn Errors, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, symbols.namesake, Neonatal Screening, Endocrinology, Muscular Diseases, Tandem Mass Spectrometry, Carnitine, Genetics, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Computer Simulation, Clinical significance, Allele, education, Molecular Biology, Alleles, Oligonucleotide Array Sequence Analysis, Sanger sequencing, Newborn screening, education.field_of_study, Genetic Carrier Screening, Acyl-CoA Dehydrogenase, Long-Chain, Infant, Newborn, Exons, Sequence Analysis, DNA, medicine.disease, Hypoglycemia, United States, Inborn error of metabolism, symbols, Female
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المؤلفون: Darrell L. Dinwiddie, Stephen F. Kingsmore, Carol J. Saunders, Emily G. Farrow, Laurie D. Smith, Andrea M. Atherton, Meghan Strenk, Neil A. Miller, Sarah E Soden
المصدر: Genomics. 102:148-156
مصطلحات موضوعية: Heterozygote, Mitochondrial DNA, Mitochondrial Diseases, Ubiquinone, Mitochondrial disease, Lactic academia, CoQ10 deficiency, Mitochondrial complex I, Human mitochondrial genetics, Article, Mitochondrial genome, MT-ATP6, Molecular diagnostics, Genetics, medicine, Humans, Exome, Exome sequencing, Homoplasmy, Electron Transport Complex I, Muscle Weakness, biology, Sequence Analysis, RNA, Infant, Newborn, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, Inborn error of metabolism, Sequence Analysis, DNA, medicine.disease, Leigh syndrome, Mitochondria, Pedigree, Molecular Diagnostic Techniques, Child, Preschool, Genome, Mitochondrial, Next-generation sequencing, biology.protein, Ataxia, Female, Leigh Disease, Coenzyme Q10 deficiency