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Gerard Pals

Showing results (81-90 of 90) with videos related to

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American Journal of Human Genetics|September 29, 2009
PPIB mutations cause severe osteogenesis imperfectaFleur S van Dijk, Isabel M Nesbitt, Eline H Zwikstra, et al.
Human Gene Therapy|May 3, 2022
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and ObstaclesElisabeth M W Eekhoff, Ruben D de Ruiter, Bernard J Smilde, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
American Journal of Human Genetics|July 30, 2013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDaniel J Moore, Alexandros Onoufriadis, Amelia Shoemark, et al.
Journal of Medical Genetics|December 15, 2011
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndromeIngrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, et al.
Frontiers in Endocrinology|December 3, 2021
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz WorkshopRuben D de Ruiter, Bernard J Smilde, Gerard Pals, et al.
The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Human Genetics|October 14, 2020
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2Fleur S van Dijk, Oliver Semler, Julia Etich, et al.
Frontiers in Endocrinology|August 28, 2020
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone CenterElisabeth M W Eekhoff, Dimitra Micha, Tymour Forouzanfar, et al.
Pageof 9

Showing results (81-90 of 90) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 90 results.
American Journal of Human Genetics|September 29, 2009
PPIB mutations cause severe osteogenesis imperfectaFleur S van Dijk, Isabel M Nesbitt, Eline H Zwikstra, et al.
Human Gene Therapy|May 3, 2022
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and ObstaclesElisabeth M W Eekhoff, Ruben D de Ruiter, Bernard J Smilde, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
American Journal of Human Genetics|July 30, 2013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDaniel J Moore, Alexandros Onoufriadis, Amelia Shoemark, et al.
Journal of Medical Genetics|December 15, 2011
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndromeIngrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, et al.
Frontiers in Endocrinology|December 3, 2021
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz WorkshopRuben D de Ruiter, Bernard J Smilde, Gerard Pals, et al.
The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Human Genetics|October 14, 2020
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2Fleur S van Dijk, Oliver Semler, Julia Etich, et al.
Frontiers in Endocrinology|August 28, 2020
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone CenterElisabeth M W Eekhoff, Dimitra Micha, Tymour Forouzanfar, et al.
Pageof 9