Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Meghan Strenk"'
Autor:
Moshe Y. Prero, Meghan Strenk, Jonathan M. Fanaroff, Jeremy R. Garrett, Ann Kessler, John D. Lantos
Publikováno v:
Pediatrics. 143
One of the most common dilemmas faced by physicians and genetic counselors is the discovery of misattributed paternity. In this article, we present a case in which misattributed paternity was discovered as an incidental finding. Experts analyze the c
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 132:S20
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 132:S23
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 116:139-145
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up molecular analyses are often required to clarify VLCADD-suggestive NBS results, b
Autor:
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
Publikováno v:
Genomics. 102:148-156
Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effecti