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Astrid S Plomp

Showing results (1-10 of 48) with videos related to

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American Journal of Medical Genetics. Part A|April 21, 2004
Does autosomal dominant pseudoxanthoma elasticum exist?Astrid S Plomp, Xiaofeng Hu, Paulus T V M de Jong, et al.
Molecular Vision|October 26, 2007
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branchesMarkus N Preising, Hedwig Forster, H Tan, et al.
American Journal of Human Genetics|March 16, 2007
Germline mutation of INI1/SMARCB1 in familial schwannomatosisTheo J M Hulsebos, Astrid S Plomp, Ruud A Wolterman, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findingsAstrid S Plomp, Johan Toonstra, Arthur A B Bergen, et al.
Survey of Ophthalmology|July 10, 2003
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular updateXiaofeng Hu, Astrid S Plomp, Simone van Soest, et al.
International Journal of Molecular Sciences|April 28, 2023
Retinitis Pigmentosa: Current Clinical Management and Emerging TherapiesXuan-Thanh-An Nguyen, Lude Moekotte, Astrid S Plomp, et al.
Pflugers Archiv : European Journal of Physiology|April 11, 2006
ABCC6 and pseudoxanthoma elasticumArthur A B Bergen, Astrid S Plomp, Xiaofeng Hu, et al.
American Journal of Ophthalmology Case Reports|May 17, 2024
Leber's hereditary optic neuropathy like disease in <i>MT-ATP6</i> variant m.8969G>ACansu de Muijnck, Mary J van Schooneveld, Astrid S Plomp, et al.
The Journal of Investigative Dermatology|June 18, 2025
Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large CohortMelanie Haverkamp, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, et al.
Human Mutation|May 28, 2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channelKatja Koeppen, Peggy Reuter, Thomas Ladewig, et al.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|April 21, 2004
Does autosomal dominant pseudoxanthoma elasticum exist?Astrid S Plomp, Xiaofeng Hu, Paulus T V M de Jong, et al.
Molecular Vision|October 26, 2007
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branchesMarkus N Preising, Hedwig Forster, H Tan, et al.
American Journal of Human Genetics|March 16, 2007
Germline mutation of INI1/SMARCB1 in familial schwannomatosisTheo J M Hulsebos, Astrid S Plomp, Ruud A Wolterman, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findingsAstrid S Plomp, Johan Toonstra, Arthur A B Bergen, et al.
Survey of Ophthalmology|July 10, 2003
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular updateXiaofeng Hu, Astrid S Plomp, Simone van Soest, et al.
International Journal of Molecular Sciences|April 28, 2023
Retinitis Pigmentosa: Current Clinical Management and Emerging TherapiesXuan-Thanh-An Nguyen, Lude Moekotte, Astrid S Plomp, et al.
Pflugers Archiv : European Journal of Physiology|April 11, 2006
ABCC6 and pseudoxanthoma elasticumArthur A B Bergen, Astrid S Plomp, Xiaofeng Hu, et al.
American Journal of Ophthalmology Case Reports|May 17, 2024
Leber's hereditary optic neuropathy like disease in <i>MT-ATP6</i> variant m.8969G>ACansu de Muijnck, Mary J van Schooneveld, Astrid S Plomp, et al.
The Journal of Investigative Dermatology|June 18, 2025
Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large CohortMelanie Haverkamp, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, et al.
Human Mutation|May 28, 2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channelKatja Koeppen, Peggy Reuter, Thomas Ladewig, et al.
Pageof 5