Showing results (71-80 of 180) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|November 25, 2020
Craniofacial phenotypes associated with Robinow syndromeChristopher 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 deficiencyNishitha 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 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.
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.
Human Genetics|August 26, 2003
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)V Reid Sutton, William H McAlister, Terry K Bertin, et al.
Pageof 18