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Kari Casas

Showing results (1-10 of 14) with videos related to

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The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG|September 30, 2021
Reduction in Newborn Screening False Positive Results Following a New Collection Protocol: a Quality Improvement ProjectMay Kamleh, Julia Muzzy Williamson, Kari Casas, et al.
American Journal of Human Genetics|April 27, 2004
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33Kari Casas, Yelena Bykhovskaya, Emebet Mengesha, et al.
Journal of Child Neurology|June 24, 2005
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 geneAvraham Zeharia, Nathan Fischel-Ghodsian, Kari Casas, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
Frontiers in Pediatrics|March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient settingLauren Thompson, Austin Larson, Lisa Salz, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasiaSmita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiersJob A J Verdonschot, Emma L Robinson, Kiely N James, et al.
Nutrients|November 17, 2019
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG|September 30, 2021
Reduction in Newborn Screening False Positive Results Following a New Collection Protocol: a Quality Improvement ProjectMay Kamleh, Julia Muzzy Williamson, Kari Casas, et al.
American Journal of Human Genetics|April 27, 2004
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33Kari Casas, Yelena Bykhovskaya, Emebet Mengesha, et al.
Journal of Child Neurology|June 24, 2005
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 geneAvraham Zeharia, Nathan Fischel-Ghodsian, Kari Casas, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
Frontiers in Pediatrics|March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient settingLauren Thompson, Austin Larson, Lisa Salz, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasiaSmita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiersJob A J Verdonschot, Emma L Robinson, Kiely N James, et al.
Nutrients|November 17, 2019
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Pageof 2