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Showing results (101-110 of 119) with videos related to

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Journal of Community Genetics|March 9, 2023
An exemplary model of genetic counselling for highly specialised servicesJuliette Harris, Marion Bartlett, Duncan Baker, et al.
American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 17, 2022
Comorbidities complicating heart failure: changes over the last 15 yearsElles M Screever, Martje H L van der Wal, Dirk J van Veldhuisen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.
European Journal of Human Genetics : EJHG|April 17, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion SyndromeClaire E Green, Shadi Albaba, Glenda J Sobey, et al.
Circulation. Cardiovascular Genetics|January 24, 2015
Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan SyndromeRomy Franken, Alexander W den Hartog, Teodora Radonic, et al.
Frontiers in Genetics|June 16, 2023
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndromeC Angwin, J Zschocke, T Kammin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.
Pageof 12

Showing results (101-110 of 119) with videos related to

Sort By:
Pageof 12
Journal of Community Genetics|March 9, 2023
An exemplary model of genetic counselling for highly specialised servicesJuliette Harris, Marion Bartlett, Duncan Baker, et al.
American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 17, 2022
Comorbidities complicating heart failure: changes over the last 15 yearsElles M Screever, Martje H L van der Wal, Dirk J van Veldhuisen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.
European Journal of Human Genetics : EJHG|April 17, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion SyndromeClaire E Green, Shadi Albaba, Glenda J Sobey, et al.
Circulation. Cardiovascular Genetics|January 24, 2015
Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan SyndromeRomy Franken, Alexander W den Hartog, Teodora Radonic, et al.
Frontiers in Genetics|June 16, 2023
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndromeC Angwin, J Zschocke, T Kammin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.
Pageof 12