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S van Dijk

Showing results (111-120 of 119) with videos related to

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Biophysical Reviews|February 2, 2018
Correction to: The Sydney Heart Bank: improving translational research while eliminating or reducing the use of animal models of human heart diseaseC G Dos Remedios, S P Lal, A Li, et al.
Biophysical Reviews|August 16, 2017
The Sydney Heart Bank: improving translational research while eliminating or reducing the use of animal models of human heart diseaseC G Dos Remedios, S P Lal, A Li, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
Circulation|September 8, 2020
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular DysplasiaAline Verstraeten, Melanie H A M Perik, Anna A Baranowska, 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.
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.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 12

Showing results (111-120 of 119) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 119 results.
Biophysical Reviews|February 2, 2018
Correction to: The Sydney Heart Bank: improving translational research while eliminating or reducing the use of animal models of human heart diseaseC G Dos Remedios, S P Lal, A Li, et al.
Biophysical Reviews|August 16, 2017
The Sydney Heart Bank: improving translational research while eliminating or reducing the use of animal models of human heart diseaseC G Dos Remedios, S P Lal, A Li, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
Circulation|September 8, 2020
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular DysplasiaAline Verstraeten, Melanie H A M Perik, Anna A Baranowska, 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.
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.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 12