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American Journal of Medical Genetics. Part A
|
March 19, 2008
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
Oleg A Shchelochkov, Ankita Patel, George M Weissenberger, et al.
Journal of Clinical Psychology in Medical Settings
|
August 14, 2025
Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta
Amena Sediqi, Roya Al-Khalili, Saunya Dover, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2020
Craniofacial phenotypes associated with Robinow syndrome
Christopher J Conlon, Amjed Abu-Ghname, Anjali C Raghuram, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
Nishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
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.
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.
Page
of 19
Search research articles
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Showing results (71-80 of 184) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
March 19, 2008
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
Oleg A Shchelochkov, Ankita Patel, George M Weissenberger, et al.
Journal of Clinical Psychology in Medical Settings
|
August 14, 2025
Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta
Amena Sediqi, Roya Al-Khalili, Saunya Dover, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2020
Craniofacial phenotypes associated with Robinow syndrome
Christopher J Conlon, Amjed Abu-Ghname, Anjali C Raghuram, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
Nishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
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.
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.
Page
of 19