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Blood
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October 17, 2020
High frequency of clonal hematopoiesis in Erdheim-Chester disease
Fleur Cohen Aubart, Damien Roos-Weil, Marine Armand, et al.
Orphanet Journal of Rare Diseases
|
May 10, 2013
Natural history of Barth syndrome: a national cohort study of 22 patients
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, et al.
Genes & Development
|
May 4, 2011
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
Andrew J Finch, Christine Hilcenko, Nicolas Basse, et al.
Orphanet Journal of Rare Diseases
|
September 27, 2012
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, et al.
Scientific Reports
|
July 2, 2025
Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit
Anna Deguet, Marie-Gabrielle Vigue, Claire Lozano, et al.
Blood Advances
|
October 3, 2024
Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms
Neval Ozkaya, Sarah Melloul Benizri, Girish Venkataraman, et al.
Blood
|
December 11, 2012
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Marlène Pasquet, Christine Bellanné-Chantelot, Suzanne Tavitian, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
November 26, 2014
Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease
Julien Haroche, Fleur Cohen-Aubart, Jean-François Emile, et al.
European Journal of Neurology
|
June 16, 2025
Quantitative Brain MRI Analysis in Neurodegenerative Langerhans Cell Histiocytosis
Chooyoung Baek, Lucas Rincon de la Rosa, Ilyes Aliouat, et al.
Molecular Genetics and Metabolism
|
January 26, 2024
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Sarah C Grünert, Terry G J Derks, Helen Mundy, et al.
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of 18
Search research articles
Search
Showing results (101-110 of 174) with videos related to
Sort By:
Page
of 18
Blood
|
October 17, 2020
High frequency of clonal hematopoiesis in Erdheim-Chester disease
Fleur Cohen Aubart, Damien Roos-Weil, Marine Armand, et al.
Orphanet Journal of Rare Diseases
|
May 10, 2013
Natural history of Barth syndrome: a national cohort study of 22 patients
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, et al.
Genes & Development
|
May 4, 2011
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
Andrew J Finch, Christine Hilcenko, Nicolas Basse, et al.
Orphanet Journal of Rare Diseases
|
September 27, 2012
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, et al.
Scientific Reports
|
July 2, 2025
Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit
Anna Deguet, Marie-Gabrielle Vigue, Claire Lozano, et al.
Blood Advances
|
October 3, 2024
Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms
Neval Ozkaya, Sarah Melloul Benizri, Girish Venkataraman, et al.
Blood
|
December 11, 2012
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Marlène Pasquet, Christine Bellanné-Chantelot, Suzanne Tavitian, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
November 26, 2014
Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease
Julien Haroche, Fleur Cohen-Aubart, Jean-François Emile, et al.
European Journal of Neurology
|
June 16, 2025
Quantitative Brain MRI Analysis in Neurodegenerative Langerhans Cell Histiocytosis
Chooyoung Baek, Lucas Rincon de la Rosa, Ilyes Aliouat, et al.
Molecular Genetics and Metabolism
|
January 26, 2024
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Sarah C Grünert, Terry G J Derks, Helen Mundy, et al.
Page
of 18