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European Journal of Pediatrics
|
November 15, 2006
Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation
Catharina Schuetz, Manfred Hoenig, Ansgar Schulz, et al.
Journal of Child Neurology
|
June 15, 2011
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations
Georgia Ramantani, Martin Häusler, Pascal Niggemann, et al.
JAMA Dermatology
|
January 24, 2019
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation
Nick Zimmermann, Christine Wolf, Reiner Schwenke, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
|
October 14, 2022
[Uncovering rare diseases in medical data-coding]
Tamara Martin, Kathrin Rommel, Carina Thomas, et al.
Pediatric Rheumatology Online Journal
|
August 24, 2017
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation
Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, et al.
TH Open : Companion Journal to Thrombosis and Haemostasis
|
December 30, 2020
Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense <i>RASGRP2</i> Mutation
Julia Körholz, Nadja Lucas, Franziska Boiti, et al.
Brain & Development
|
November 7, 2020
PNPT1 mutations may cause Aicardi-Goutières-Syndrome
Daniel Bamborschke, Mona Kreutzer, Anne Koy, et al.
Current Rheumatology Reports
|
April 22, 2018
Therapeutic Approaches to Type I Interferonopathies
Marc Bienias, Normi Brück, Constanze Griep, et al.
Human Mutation
|
April 21, 2005
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)
Dalia Toaima, Andrea Näke, Jutta Wendenburg, et al.
Health Informatics Journal
|
June 10, 2024
Transition database for rare diseases and its use for clinical documentation
Michele Zoch, Christian Gierschner, Richard Gebler, et al.
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of 9
Search research articles
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Showing results (21-30 of 86) with videos related to
Sort By:
Page
of 9
European Journal of Pediatrics
|
November 15, 2006
Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation
Catharina Schuetz, Manfred Hoenig, Ansgar Schulz, et al.
Journal of Child Neurology
|
June 15, 2011
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations
Georgia Ramantani, Martin Häusler, Pascal Niggemann, et al.
JAMA Dermatology
|
January 24, 2019
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation
Nick Zimmermann, Christine Wolf, Reiner Schwenke, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
|
October 14, 2022
[Uncovering rare diseases in medical data-coding]
Tamara Martin, Kathrin Rommel, Carina Thomas, et al.
Pediatric Rheumatology Online Journal
|
August 24, 2017
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation
Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, et al.
TH Open : Companion Journal to Thrombosis and Haemostasis
|
December 30, 2020
Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense <i>RASGRP2</i> Mutation
Julia Körholz, Nadja Lucas, Franziska Boiti, et al.
Brain & Development
|
November 7, 2020
PNPT1 mutations may cause Aicardi-Goutières-Syndrome
Daniel Bamborschke, Mona Kreutzer, Anne Koy, et al.
Current Rheumatology Reports
|
April 22, 2018
Therapeutic Approaches to Type I Interferonopathies
Marc Bienias, Normi Brück, Constanze Griep, et al.
Human Mutation
|
April 21, 2005
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)
Dalia Toaima, Andrea Näke, Jutta Wendenburg, et al.
Health Informatics Journal
|
June 10, 2024
Transition database for rare diseases and its use for clinical documentation
Michele Zoch, Christian Gierschner, Richard Gebler, et al.
Page
of 9