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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 Metabolism
Adam 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 Metabolism
Ning 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 MTRR
John 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 Solutions
Jeffrey J Schwinefus, Marija Corluka, Isabella Dobrinski, et al.
Pediatric Endocrinology Reviews : PER
|
January 14, 2015
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition
Bonnie 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 Screen
Bonnie 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 amniocytes
Lisa 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 diagnosis
Kevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, et al.
Clinical Genetics
|
February 13, 2021
Health-related quality of life in adults with osteogenesis imperfecta
Chaya N Murali, Brady Slater, Salma Musaad, et al.
Page
of 28
Search research articles
Search
Showing results (161-170 of 276) with videos related to
Sort By:
Page
of 28
Genetic Testing and Molecular Biomarkers
|
July 23, 2016
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism
Adam 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 Metabolism
Ning 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 MTRR
John 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 Solutions
Jeffrey J Schwinefus, Marija Corluka, Isabella Dobrinski, et al.
Pediatric Endocrinology Reviews : PER
|
January 14, 2015
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition
Bonnie 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 Screen
Bonnie 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 amniocytes
Lisa 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 diagnosis
Kevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, et al.
Clinical Genetics
|
February 13, 2021
Health-related quality of life in adults with osteogenesis imperfecta
Chaya N Murali, Brady Slater, Salma Musaad, et al.
Page
of 28