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Frontiers in Pediatrics
|
September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
Scientific Reports
|
January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
Kidney International Reports
|
July 18, 2025
Corrigendum to "Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children" [<i>Kidney International Reports</i> Volume 10, Issue 4, April 2025, Pages 1205-1212]
Mathilde Glénisson, Mathilde Grapin, Thomas Blanc, et al.
Frontiers in Immunology
|
July 2, 2025
Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years
Lúcia Mamede, Roser Cantenys Sabà, Samya Van Coillie, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
JAMA Dermatology
|
May 28, 2025
Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis
Paula Pernea, Cecile Méni, Julien Rossignol, et al.
The Journal of Allergy and Clinical Immunology
|
September 7, 2023
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants
Coralie Bloch, Jean Philippe Jais, Marine Gil, et al.
Journal of the American Academy of Dermatology
|
August 13, 2022
Association of atypical skin manifestations at the onset of systemic juvenile idiopathic arthritis with difficult-to-treat disease: A retrospective multicenter study
Laurye-Anne Eveillard, Pierre Quartier, Naim Ouldali, et al.
Journal of the American Academy of Dermatology
|
September 29, 2024
Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study
Claire Guillemin, Nathalia Bellon, Marie Jachiet, et al.
Blood
|
April 4, 2019
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes
Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 124) with videos related to
Sort By:
Page
of 13
Frontiers in Pediatrics
|
September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
Scientific Reports
|
January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
Kidney International Reports
|
July 18, 2025
Corrigendum to "Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children" [<i>Kidney International Reports</i> Volume 10, Issue 4, April 2025, Pages 1205-1212]
Mathilde Glénisson, Mathilde Grapin, Thomas Blanc, et al.
Frontiers in Immunology
|
July 2, 2025
Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years
Lúcia Mamede, Roser Cantenys Sabà, Samya Van Coillie, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
JAMA Dermatology
|
May 28, 2025
Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis
Paula Pernea, Cecile Méni, Julien Rossignol, et al.
The Journal of Allergy and Clinical Immunology
|
September 7, 2023
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants
Coralie Bloch, Jean Philippe Jais, Marine Gil, et al.
Journal of the American Academy of Dermatology
|
August 13, 2022
Association of atypical skin manifestations at the onset of systemic juvenile idiopathic arthritis with difficult-to-treat disease: A retrospective multicenter study
Laurye-Anne Eveillard, Pierre Quartier, Naim Ouldali, et al.
Journal of the American Academy of Dermatology
|
September 29, 2024
Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study
Claire Guillemin, Nathalia Bellon, Marie Jachiet, et al.
Blood
|
April 4, 2019
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes
Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, et al.
Page
of 13