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Orphanet Journal of Rare Diseases
|
June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
Pascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Neuromuscular Disorders : NMD
|
October 3, 2022
Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract
I E A Karnebeek, H T M Boon, A M P Huis, et al.
The British Journal of Dermatology
|
October 8, 2017
Development of an international core outcome set for peripheral vascular malformations: the OVAMA project
S E R Horbach, C M A M van der Horst, F Blei, et al.
Plos One
|
April 29, 2020
Quality of initial anticoagulant treatment and risk of CTEPH after acute pulmonary embolism
Gudula J A M Boon, Nienke van Rein, Harm Jan Bogaard, et al.
Plos One
|
June 3, 2020
Correction: Quality of initial anticoagulant treatment and risk of CTEPH after acute pulmonary embolism
Gudula J A M Boon, Nienke van Rein, Harm Jan Bogaard, et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation
|
April 10, 2019
Usefulness of standard computed tomography pulmonary angiography performed for acute pulmonary embolism for identification of chronic thromboembolic pulmonary hypertension: results of the InShape III study
Yvonne M Ende-Verhaar, Lilian J Meijboom, Lucia J M Kroft, et al.
Nature Immunology
|
February 10, 2024
Mucosal vaccine-induced cross-reactive CD8<sup>+</sup> T cells protect against SARS-CoV-2 XBB.1.5 respiratory tract infection
Baoling Ying, Tamarand L Darling, Pritesh Desai, et al.
Journal of Medical Genetics
|
February 4, 2005
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
P Brouillard, M Ghassibé, A Penington, et al.
Pulmonary Circulation
|
May 2, 2023
Automated quantification of the pulmonary vasculature in pulmonary embolism and chronic thromboembolic pulmonary hypertension
Zhiwei Zhai, Gudula J A M Boon, Marius Staring, et al.
Molecular Syndromology
|
June 27, 2013
Genotypes and phenotypes of 162 families with a glomulin mutation
P Brouillard, L M Boon, N Revencu, et al.
Page
of 46
Search research articles
Search
Showing results (371-380 of 460) with videos related to
Sort By:
Page
of 46
Orphanet Journal of Rare Diseases
|
June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
Pascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Neuromuscular Disorders : NMD
|
October 3, 2022
Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract
I E A Karnebeek, H T M Boon, A M P Huis, et al.
The British Journal of Dermatology
|
October 8, 2017
Development of an international core outcome set for peripheral vascular malformations: the OVAMA project
S E R Horbach, C M A M van der Horst, F Blei, et al.
Plos One
|
April 29, 2020
Quality of initial anticoagulant treatment and risk of CTEPH after acute pulmonary embolism
Gudula J A M Boon, Nienke van Rein, Harm Jan Bogaard, et al.
Plos One
|
June 3, 2020
Correction: Quality of initial anticoagulant treatment and risk of CTEPH after acute pulmonary embolism
Gudula J A M Boon, Nienke van Rein, Harm Jan Bogaard, et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation
|
April 10, 2019
Usefulness of standard computed tomography pulmonary angiography performed for acute pulmonary embolism for identification of chronic thromboembolic pulmonary hypertension: results of the InShape III study
Yvonne M Ende-Verhaar, Lilian J Meijboom, Lucia J M Kroft, et al.
Nature Immunology
|
February 10, 2024
Mucosal vaccine-induced cross-reactive CD8<sup>+</sup> T cells protect against SARS-CoV-2 XBB.1.5 respiratory tract infection
Baoling Ying, Tamarand L Darling, Pritesh Desai, et al.
Journal of Medical Genetics
|
February 4, 2005
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
P Brouillard, M Ghassibé, A Penington, et al.
Pulmonary Circulation
|
May 2, 2023
Automated quantification of the pulmonary vasculature in pulmonary embolism and chronic thromboembolic pulmonary hypertension
Zhiwei Zhai, Gudula J A M Boon, Marius Staring, et al.
Molecular Syndromology
|
June 27, 2013
Genotypes and phenotypes of 162 families with a glomulin mutation
P Brouillard, L M Boon, N Revencu, et al.
Page
of 46