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Esther Kinning

Showing results (11-20 of 35) with videos related to

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Bone Reports|March 20, 2023
Progressive osseous heteroplasia: A case report with an unexpected triggerAlessandra Boncompagni, Angela K Lucas-Herald, Paula Beattie, et al.
Proteomics. Clinical Applications|December 15, 2018
Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 MutationAngela K Lucas-Herald, Petra Zürbig, Avril Mason, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Investigative Ophthalmology & Visual Science|April 26, 2003
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5Michel Michaelides, Samantha Johnson, Alok K Tekriwal, et al.
Clinical Genetics|April 22, 2025
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory InsufficiencyLaura M Watts, Esther Kinning, Donald R Latner, et al.
Clinical Genetics|July 17, 2019
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticityJustyna A Karolak, Przemyslaw Szafranski, David Kilner, et al.
Human Molecular Genetics|January 30, 2003
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeVincent El Ghouzzi, Nathalie Dagoneau, Esther Kinning, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2014
Germline FH mutations presenting with pheochromocytomaGraeme R Clark, Marco Sciacovelli, Edoardo Gaude, et al.
Neurogenetics|April 15, 2010
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate, Dimitra Dafou, Jacqueline Hoyle, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Bone Reports|March 20, 2023
Progressive osseous heteroplasia: A case report with an unexpected triggerAlessandra Boncompagni, Angela K Lucas-Herald, Paula Beattie, et al.
Proteomics. Clinical Applications|December 15, 2018
Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 MutationAngela K Lucas-Herald, Petra Zürbig, Avril Mason, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Investigative Ophthalmology & Visual Science|April 26, 2003
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5Michel Michaelides, Samantha Johnson, Alok K Tekriwal, et al.
Clinical Genetics|April 22, 2025
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory InsufficiencyLaura M Watts, Esther Kinning, Donald R Latner, et al.
Clinical Genetics|July 17, 2019
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticityJustyna A Karolak, Przemyslaw Szafranski, David Kilner, et al.
Human Molecular Genetics|January 30, 2003
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeVincent El Ghouzzi, Nathalie Dagoneau, Esther Kinning, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2014
Germline FH mutations presenting with pheochromocytomaGraeme R Clark, Marco Sciacovelli, Edoardo Gaude, et al.
Neurogenetics|April 15, 2010
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate, Dimitra Dafou, Jacqueline Hoyle, et al.
Pageof 4