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Swaroop Aradhya

Showing results (51-60 of 87) with videos related to

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American Journal of Medical Genetics. Part A|April 17, 2020
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decadesYves Lacassie, Britt Johnson, Guillermo Lay-Son, et al.
Journal of the Peripheral Nervous System : JPNS|August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathyJennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 11, 2021
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing ProgramEric T Rush, Britt Johnson, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
Response to Maya et alErin Rooney Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratoriesKathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.
Frontiers in Medicine|April 8, 2021
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic MarkersDragan Primorac, Ljubica Odak, Vitorio Perić, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Pageof 9

Showing results (51-60 of 87) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|April 17, 2020
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decadesYves Lacassie, Britt Johnson, Guillermo Lay-Son, et al.
Journal of the Peripheral Nervous System : JPNS|August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathyJennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 11, 2021
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing ProgramEric T Rush, Britt Johnson, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
Response to Maya et alErin Rooney Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratoriesKathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.
Frontiers in Medicine|April 8, 2021
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic MarkersDragan Primorac, Ljubica Odak, Vitorio Perić, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Pageof 9