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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
November 11, 2020
Hyperferritinaemia-cataract syndrome
Andreas Benneche, Miriam Sandnes, Åsne Bakke, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
March 20, 2024
[A child with persistent anaemia]
Maria Winther Gunnes, Andreas Benneche, Anne Grete Bechensteen
Case Reports in Hematology
|
March 7, 2023
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
Janne Austestad, Tor Magne Madland, Miriam Sandnes, et al.
Journal of Autoimmunity
|
October 3, 2022
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies
Thea Sjøgren, Eirik Bratland, Ellen C Røyrvik, et al.
Haematologica
|
August 28, 2025
CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9
Daniëla M Hinke, Sofie R Dorset, Eirik Bratland, et al.
European Journal of Human Genetics : EJHG
|
October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, Vani Jain, Andreas Benneche, et al.
Blood Advances
|
January 13, 2022
Validation and clinical application of transactivation assays for RUNX1 variant classification
Melanie Decker, Anupriya Agarwal, Andreas Benneche, et al.
Journal of Clinical Immunology
|
December 11, 2021
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
Silje F Jørgensen, Jochen Buechner, Anders E Myhre, et al.
Human Mutation
|
May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
Brain : a Journal of Neurology
|
June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
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Search research articles
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Showing results (1-10 of 11) with videos related to
Sort By:
Page
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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
November 11, 2020
Hyperferritinaemia-cataract syndrome
Andreas Benneche, Miriam Sandnes, Åsne Bakke, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
March 20, 2024
[A child with persistent anaemia]
Maria Winther Gunnes, Andreas Benneche, Anne Grete Bechensteen
Case Reports in Hematology
|
March 7, 2023
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
Janne Austestad, Tor Magne Madland, Miriam Sandnes, et al.
Journal of Autoimmunity
|
October 3, 2022
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies
Thea Sjøgren, Eirik Bratland, Ellen C Røyrvik, et al.
Haematologica
|
August 28, 2025
CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9
Daniëla M Hinke, Sofie R Dorset, Eirik Bratland, et al.
European Journal of Human Genetics : EJHG
|
October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, Vani Jain, Andreas Benneche, et al.
Blood Advances
|
January 13, 2022
Validation and clinical application of transactivation assays for RUNX1 variant classification
Melanie Decker, Anupriya Agarwal, Andreas Benneche, et al.
Journal of Clinical Immunology
|
December 11, 2021
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
Silje F Jørgensen, Jochen Buechner, Anders E Myhre, et al.
Human Mutation
|
May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
Brain : a Journal of Neurology
|
June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
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of 2