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Anne Slavotinek

Showing results (31-40 of 147) with videos related to

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Clinical Genetics|November 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial AsymmetrySomin Jo, Christine Lee, Lori White, et al.
American Journal of Medical Genetics. Part A|August 25, 2010
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic herniaJacob Hogue, Suma Shankar, Hazel Perry, et al.
Human Genetics|March 31, 2022
Predicting genes from phenotypes using human phenotype ontology (HPO) termsAnne Slavotinek, Hannah Prasad, Tiffany Yip, et al.
Pediatric Transplantation|July 10, 2016
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya diseaseAris Oates, Jessica Brennan, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|May 2, 2022
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomaliesHannah Kortbawi, Elizabeth Ames, Amanda Pritchard, et al.
Journal of Medical Genetics|July 1, 2017
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneityBeom Hee Lee, Aneel Aggarwal, Anne Slavotinek, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 16, 2010
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the probandPhoebe Lin, Suma P Shankar, Jacque Duncan, et al.
Clinical Dysmorphology|March 17, 2005
Case report: Y;6 translocation with deletion of 6pOphir D Klein, Kendall Backstrand, Philip D Cotter, et al.
RNA & Disease (Houston, Tex.)|October 22, 2021
Modeling Pathogenic Variants in the RNA ExosomeJulia de Amorim, Anne Slavotinek, Milo B Fasken, et al.
Clinical Genetics|April 5, 2021
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of resultsKatherine E Donohue, Catherine Gooch, Alexander Katz, et al.
Pageof 15

Showing results (31-40 of 147) with videos related to

Sort By:
Pageof 15
Clinical Genetics|November 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial AsymmetrySomin Jo, Christine Lee, Lori White, et al.
American Journal of Medical Genetics. Part A|August 25, 2010
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic herniaJacob Hogue, Suma Shankar, Hazel Perry, et al.
Human Genetics|March 31, 2022
Predicting genes from phenotypes using human phenotype ontology (HPO) termsAnne Slavotinek, Hannah Prasad, Tiffany Yip, et al.
Pediatric Transplantation|July 10, 2016
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya diseaseAris Oates, Jessica Brennan, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|May 2, 2022
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomaliesHannah Kortbawi, Elizabeth Ames, Amanda Pritchard, et al.
Journal of Medical Genetics|July 1, 2017
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneityBeom Hee Lee, Aneel Aggarwal, Anne Slavotinek, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 16, 2010
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the probandPhoebe Lin, Suma P Shankar, Jacque Duncan, et al.
Clinical Dysmorphology|March 17, 2005
Case report: Y;6 translocation with deletion of 6pOphir D Klein, Kendall Backstrand, Philip D Cotter, et al.
RNA & Disease (Houston, Tex.)|October 22, 2021
Modeling Pathogenic Variants in the RNA ExosomeJulia de Amorim, Anne Slavotinek, Milo B Fasken, et al.
Clinical Genetics|April 5, 2021
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of resultsKatherine E Donohue, Catherine Gooch, Alexander Katz, et al.
Pageof 15