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Sabine Duchatelet

Showing results (1-10 of 18) with videos related to

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Orphanet Journal of Rare Diseases|April 19, 2015
Olmsted syndrome: clinical, molecular and therapeutic aspectsSabine Duchatelet, Alain Hovnanian
The Journal of Investigative Dermatology|May 13, 2015
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasiaSabine Duchatelet, Alain Hovnanian
Human Molecular Genetics|November 5, 2004
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromesSabine Duchatelet, Elsebet Ostergaard, Dina Cortes, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|October 27, 2007
FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traitsSabine Duchatelet, Sophie Caillat-Zucman, Danièle Dubois-Laforgue, et al.
JAMA Dermatology|January 24, 2014
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgiaSabine Duchatelet, Solenn Pruvost, Simon de Veer, et al.
Diabetes|January 30, 2007
PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traitsClaude Chelala, Sabine Duchatelet, Marie-Line Joffret, et al.
Journal of the American Academy of Dermatology|October 17, 2015
Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patientsOlivier Join-Lambert, Sabine Duchatelet, Maïa Delage, et al.
Heart Rhythm|March 4, 2014
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillationAzza Ziyadeh-Isleem, Jérôme Clatot, Sabine Duchatelet, et al.
The Journal of Investigative Dermatology|April 28, 2020
The Surface Microbiome of Clinically Unaffected Skinfolds in Hidradenitis Suppurativa: A Cross-Sectional Culture-Based and 16S rRNA Gene Amplicon Sequencing Study in 60 PatientsÉmeline Riverain-Gillet, Hélène Guet-Revillet, Jean-Philippe Jais, et al.
European Journal of Human Genetics : EJHG|December 5, 2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosaNathalie Pironon, Artyom Gasparyan, María Joao Yubero, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Orphanet Journal of Rare Diseases|April 19, 2015
Olmsted syndrome: clinical, molecular and therapeutic aspectsSabine Duchatelet, Alain Hovnanian
The Journal of Investigative Dermatology|May 13, 2015
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasiaSabine Duchatelet, Alain Hovnanian
Human Molecular Genetics|November 5, 2004
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromesSabine Duchatelet, Elsebet Ostergaard, Dina Cortes, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|October 27, 2007
FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traitsSabine Duchatelet, Sophie Caillat-Zucman, Danièle Dubois-Laforgue, et al.
JAMA Dermatology|January 24, 2014
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgiaSabine Duchatelet, Solenn Pruvost, Simon de Veer, et al.
Diabetes|January 30, 2007
PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traitsClaude Chelala, Sabine Duchatelet, Marie-Line Joffret, et al.
Journal of the American Academy of Dermatology|October 17, 2015
Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patientsOlivier Join-Lambert, Sabine Duchatelet, Maïa Delage, et al.
Heart Rhythm|March 4, 2014
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillationAzza Ziyadeh-Isleem, Jérôme Clatot, Sabine Duchatelet, et al.
The Journal of Investigative Dermatology|April 28, 2020
The Surface Microbiome of Clinically Unaffected Skinfolds in Hidradenitis Suppurativa: A Cross-Sectional Culture-Based and 16S rRNA Gene Amplicon Sequencing Study in 60 PatientsÉmeline Riverain-Gillet, Hélène Guet-Revillet, Jean-Philippe Jais, et al.
European Journal of Human Genetics : EJHG|December 5, 2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosaNathalie Pironon, Artyom Gasparyan, María Joao Yubero, et al.
Pageof 2