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Jan M Cobben

Showing results (11-20 of 24) with videos related to

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Molecular Genetics and Metabolism|October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizuresMarieke G A de Roo, Nico G G M Abeling, Charles B Majoie, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2015
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literatureMarije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
The clinical spectrum of complete FBN1 allele deletionsYvonne Hilhorst-Hofstee, Ben C J Hamel, Joke B G M Verheij, 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.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Journal of the American College of Cardiology|May 29, 2012
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variantsDenise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, 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.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizuresMarieke G A de Roo, Nico G G M Abeling, Charles B Majoie, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2015
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literatureMarije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
The clinical spectrum of complete FBN1 allele deletionsYvonne Hilhorst-Hofstee, Ben C J Hamel, Joke B G M Verheij, 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.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Journal of the American College of Cardiology|May 29, 2012
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variantsDenise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, 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.
Pageof 3