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Catherine Rehder

Showing results (41-50 of 49) with videos related to

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The Journal of Pediatrics|May 29, 2019
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn ScreeningJennifer L Taylor, Kristin Clinard, Cynthia M Powell, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variantsRodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Bone|October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variantsMariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variantsMariam R Farman, Theodora Malli, Catherine Rehder, et al.
Molecular Genetics and Metabolism|October 31, 2023
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelJennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, et al.
Molecular Genetics and Metabolism|May 26, 2026
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panelMelanie Lacaria, Jennifer L Goldstein, Carlos Aschoff, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
The Journal of Pediatrics|May 29, 2019
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn ScreeningJennifer L Taylor, Kristin Clinard, Cynthia M Powell, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variantsRodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Bone|October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variantsMariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variantsMariam R Farman, Theodora Malli, Catherine Rehder, et al.
Molecular Genetics and Metabolism|October 31, 2023
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelJennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, et al.
Molecular Genetics and Metabolism|May 26, 2026
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panelMelanie Lacaria, Jennifer L Goldstein, Carlos Aschoff, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
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