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Showing results (161-170 of 276) with videos related to

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Genetic Testing and Molecular Biomarkers|July 23, 2016
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of MetabolismAdam D Kennedy, Marcus J Miller, Kirk Beebe, et al.
JAMA Network Open|July 12, 2021
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of MetabolismNing Liu, Jing Xiao, Charul Gijavanekar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 5, 2020
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)Sarah T South, Michelle McClure, Caroline Astbury, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRRJohn Dean, Zoe Robertson, V Reid, et al.
Biomolecules|May 27, 2026
Effects of Loop Nucleobase Substitution on G-Quadruplex Thermal Stability in Aqueous Glycine Betaine, Proline, TMAO, and Urea SolutionsJeffrey J Schwinefus, Marija Corluka, Isabella Dobrinski, et al.
Pediatric Endocrinology Reviews : PER|January 14, 2015
Nonclassical congenital adrenal hyperplasia: targets of treatment and transitionBonnie McCann-Crosby, Min-Jye Chen, Sarah K Lyons, et al.
International Journal of Neonatal Screening|September 27, 2023
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn ScreenBonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Frontiers in Genetics|July 16, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosisKevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, et al.
Clinical Genetics|February 13, 2021
Health-related quality of life in adults with osteogenesis imperfectaChaya N Murali, Brady Slater, Salma Musaad, et al.
Pageof 28

Showing results (161-170 of 276) with videos related to

Sort By:
Pageof 28
Genetic Testing and Molecular Biomarkers|July 23, 2016
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of MetabolismAdam D Kennedy, Marcus J Miller, Kirk Beebe, et al.
JAMA Network Open|July 12, 2021
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of MetabolismNing Liu, Jing Xiao, Charul Gijavanekar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 5, 2020
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)Sarah T South, Michelle McClure, Caroline Astbury, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRRJohn Dean, Zoe Robertson, V Reid, et al.
Biomolecules|May 27, 2026
Effects of Loop Nucleobase Substitution on G-Quadruplex Thermal Stability in Aqueous Glycine Betaine, Proline, TMAO, and Urea SolutionsJeffrey J Schwinefus, Marija Corluka, Isabella Dobrinski, et al.
Pediatric Endocrinology Reviews : PER|January 14, 2015
Nonclassical congenital adrenal hyperplasia: targets of treatment and transitionBonnie McCann-Crosby, Min-Jye Chen, Sarah K Lyons, et al.
International Journal of Neonatal Screening|September 27, 2023
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn ScreenBonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Frontiers in Genetics|July 16, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosisKevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, et al.
Clinical Genetics|February 13, 2021
Health-related quality of life in adults with osteogenesis imperfectaChaya N Murali, Brady Slater, Salma Musaad, et al.
Pageof 28