Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jessica Heremans"'
Autor:
Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Daniel Greene, Benjamin Jenkins, Luigi Grassi, Denis Seyres, Frances Burden, Deborah Whitehorn, Olga Shamardina, Sofia Papadia, Keith Gomez, NIHR BioResource, Chris Van Geet, Albert Koulman, Willem H. Ouwehand, Cedric Ghevaert, Mattia Frontini, Ernest Turro, Kathleen Freson
Publikováno v:
Haematologica, Vol 104, Iss 5 (2019)
Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resu
Externí odkaz:
https://doaj.org/article/55df2b7d936548528312579af7651e40
Autor:
Kathleen Stirrups, Chris Van Geet, Stephanie Humblet-Baron, Ernest Turro, Daniel Greene, Isabelle Meyts, Erika Van Nieuwenhove, Roxanne Collin, Patrick Matthys, Karen Put, Sylvie Lesage, Jessica Heremans, Adrian Liston, Josselyn E. Garcia-Perez, Christopher J. Penkett, Ingele Casteels, Francis de Zegher, Chantal Thys, Kathleen Freson, Susan M. Schlenner, Carine Wouters
Publikováno v:
Journal of Allergy and Clinical Immunology. 142:630-646
BACKGROUND: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous variants in the small
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdada06f12b6b129608753fed95333e0
https://doi.org/10.1016/j.jaci.2017.11.061
https://doi.org/10.1016/j.jaci.2017.11.061
Autor:
Deborah Whitehorn, Mattia Frontini, Ernest Turro, Luigi Grassi, Cedric Ghevaert, Albert Koulman, Tadbir K. Bariana, Veerle Labarque, Keith Gomez, Willem H. Ouwehand, Benjamin Jenkins, Jessica Heremans, Olga Shamardina, Mara De Reys, Chris Van Geet, Sofia Papadia, Denis Seyres, Frances Burden, Daniel Greene, Nihr BioResource, Chantal Thys, Kathleen Freson
Publikováno v:
Haematologica
Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27dceab59bf0353e0f8e0609cd148aa2
https://www.repository.cam.ac.uk/handle/1810/287708
https://www.repository.cam.ac.uk/handle/1810/287708
Autor:
Jessica Heremans, Kathleen Freson
Publikováno v:
International journal of laboratory hematology. 40
Inherited platelet disorders (IPDs) are a heterogeneous group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for IPD patients using a phenotype- and laboratory-based approach is complex, expensive, time-consuming, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3001916d124a3a0978ef8202999ae1ff
https://pubmed.ncbi.nlm.nih.gov/29741246
https://pubmed.ncbi.nlm.nih.gov/29741246