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Astrid S Plomp

Showing results (11-20 of 48) with videos related to

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American Journal of Ophthalmology|March 28, 2006
Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth Spruijt, Dinanda N Kolbach, Rene F de Coo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6Astrid S Plomp, Arthur A B Bergen, Ralph J Florijn, et al.
European Journal of Human Genetics : EJHG|May 28, 2024
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosaKae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
Ocular albinism with infertility and late-onset sensorineural hearing lossBjørn K Fabian-Jessing, Else Marie Vestergaard, Astrid S Plomp, et al.
Human Mutation|July 26, 2017
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disordersElliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, et al.
Molecular Vision|February 7, 2008
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel onesAstrid S Plomp, Ralph J Florijn, Jacoline Ten Brink, et al.
Bone Reports|May 13, 2021
Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a <i>PTHLH</i> duplication: A case reportCarline E Tacke, Suzanne W J Terheggen-Lagro, Annemieke M Boot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2010
Complete COL1A1 allele deletions in osteogenesis imperfectaFleur S van Dijk, Margriet Huizer, Ariana Kariminejad, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndromeLuc Cozijnsen, Astrid S Plomp, Jan G Post, et al.
Ophthalmic Genetics|May 26, 2025
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)Jonathan Hensman, Mary J van Schooneveld, Roselie M H Diederen, et al.
Pageof 5

Showing results (11-20 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Ophthalmology|March 28, 2006
Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth Spruijt, Dinanda N Kolbach, Rene F de Coo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6Astrid S Plomp, Arthur A B Bergen, Ralph J Florijn, et al.
European Journal of Human Genetics : EJHG|May 28, 2024
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosaKae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
Ocular albinism with infertility and late-onset sensorineural hearing lossBjørn K Fabian-Jessing, Else Marie Vestergaard, Astrid S Plomp, et al.
Human Mutation|July 26, 2017
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disordersElliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, et al.
Molecular Vision|February 7, 2008
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel onesAstrid S Plomp, Ralph J Florijn, Jacoline Ten Brink, et al.
Bone Reports|May 13, 2021
Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a <i>PTHLH</i> duplication: A case reportCarline E Tacke, Suzanne W J Terheggen-Lagro, Annemieke M Boot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2010
Complete COL1A1 allele deletions in osteogenesis imperfectaFleur S van Dijk, Margriet Huizer, Ariana Kariminejad, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndromeLuc Cozijnsen, Astrid S Plomp, Jan G Post, et al.
Ophthalmic Genetics|May 26, 2025
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)Jonathan Hensman, Mary J van Schooneveld, Roselie M H Diederen, et al.
Pageof 5