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Frontiers in Immunology
|
June 6, 2022
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
Giovanni Del Borrello, Maurizio Miano, Concetta Micalizzi, et al.
Orphanet Journal of Rare Diseases
|
May 1, 2015
Proceedings of the fourth international conference on central hypoventilation
Ha Trang, Jean-François Brunet, Hermann Rohrer, et al.
Orphanet Journal of Rare Diseases
|
December 3, 2013
Pathways systematically associated to Hirschsprung's disease
Raquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
December 21, 2025
Decision tree analysis as a preliminary evidence-based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome
Riccardo Papa, Francesca Bovis, Silvia Federici, et al.
Frontiers in Pediatrics
|
August 27, 2019
A Metagenomics Study on Hirschsprung's Disease Associated Enterocolitis: Biodiversity and Gut Microbial Homeostasis Depend on Resection Length and Patient's Clinical History
Alessio Pini Prato, Casey Bartow-McKenney, Kelly Hudspeth, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|
November 20, 2022
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
Susan M Slattery, Iris A Perez, Isabella Ceccherini, et al.
The Journal of Rheumatology
|
April 3, 2016
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study
Aldo Naselli, Federica Penco, Luca Cantarini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 7, 2021
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Amy Zhou, Casey M Rand, Sara M Hockney, et al.
Pediatrics
|
September 30, 2009
Differentiating PFAPA syndrome from monogenic periodic fevers
Marco Gattorno, Roberta Caorsi, Antonella Meini, et al.
Plos One
|
May 15, 2013
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease
Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, et al.
Page
of 18
Search research articles
Search
Showing results (131-140 of 180) with videos related to
Sort By:
Page
of 18
Frontiers in Immunology
|
June 6, 2022
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
Giovanni Del Borrello, Maurizio Miano, Concetta Micalizzi, et al.
Orphanet Journal of Rare Diseases
|
May 1, 2015
Proceedings of the fourth international conference on central hypoventilation
Ha Trang, Jean-François Brunet, Hermann Rohrer, et al.
Orphanet Journal of Rare Diseases
|
December 3, 2013
Pathways systematically associated to Hirschsprung's disease
Raquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
December 21, 2025
Decision tree analysis as a preliminary evidence-based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome
Riccardo Papa, Francesca Bovis, Silvia Federici, et al.
Frontiers in Pediatrics
|
August 27, 2019
A Metagenomics Study on Hirschsprung's Disease Associated Enterocolitis: Biodiversity and Gut Microbial Homeostasis Depend on Resection Length and Patient's Clinical History
Alessio Pini Prato, Casey Bartow-McKenney, Kelly Hudspeth, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|
November 20, 2022
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
Susan M Slattery, Iris A Perez, Isabella Ceccherini, et al.
The Journal of Rheumatology
|
April 3, 2016
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study
Aldo Naselli, Federica Penco, Luca Cantarini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 7, 2021
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Amy Zhou, Casey M Rand, Sara M Hockney, et al.
Pediatrics
|
September 30, 2009
Differentiating PFAPA syndrome from monogenic periodic fevers
Marco Gattorno, Roberta Caorsi, Antonella Meini, et al.
Plos One
|
May 15, 2013
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease
Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, et al.
Page
of 18