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American Journal of Human Genetics
|
January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
October 2, 2024
Angioedema due to Acquired C1-Inhibitor Deficiency Associated With Monoclonal Gammopathies of Undetermined Significance Characteristics of a French National Cohort
Constance Lahuna, Federica Defendi, Laurence Bouillet, et al.
Archives of Dermatology
|
July 18, 2012
Prognostic factors of paraneoplastic pemphigus
Sandy Leger, Damien Picard, Saskia Ingen-Housz-Oro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Victoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
American Journal of Human Genetics
|
May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
The New England Journal of Medicine
|
September 8, 2010
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema
Marco Cicardi, Aleena Banerji, Francisco Bracho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Clinical Genetics
|
August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations
Laurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
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Showing results (211-220 of 219) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 219 results.
American Journal of Human Genetics
|
January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
October 2, 2024
Angioedema due to Acquired C1-Inhibitor Deficiency Associated With Monoclonal Gammopathies of Undetermined Significance Characteristics of a French National Cohort
Constance Lahuna, Federica Defendi, Laurence Bouillet, et al.
Archives of Dermatology
|
July 18, 2012
Prognostic factors of paraneoplastic pemphigus
Sandy Leger, Damien Picard, Saskia Ingen-Housz-Oro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Victoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
American Journal of Human Genetics
|
May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
The New England Journal of Medicine
|
September 8, 2010
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema
Marco Cicardi, Aleena Banerji, Francisco Bracho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Clinical Genetics
|
August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations
Laurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
Page
of 22