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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2022
Response to Leidi et al
Adeline Vanderver, Ralf A Husain
Frontiers in Immunology
|
August 28, 2020
mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance
Kristin Ludwig, Ralf A Husain, Ignacio Rubio
Orphanet Journal of Rare Diseases
|
September 11, 2020
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data
Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, et al.
Journal of Neuromuscular Diseases
|
December 3, 2023
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, et al.
Annals of Hematology
|
November 10, 2010
Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma
Ellen Ritter, Ralf A Husain, Katrin Hinderhofer, et al.
European Journal of Immunology
|
March 25, 2022
The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation
Mohamed Ghait, Ralf A Husain, Shivalee N Duduskar, et al.
Molecular Syndromology
|
October 3, 2024
<i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome
Miriam Bertrand, Gulalai Shah, Brent S Pedersen, et al.
Neuropediatrics
|
December 1, 2021
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Johanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, et al.
Npj Metabolic Health and Disease
|
May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
Gabriella Allegri, Martin Poms, Nadia Zürcher, et al.
Der Nervenarzt
|
May 13, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]
Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, et al.
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Search research articles
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Showing results (1-10 of 33) with videos related to
Sort By:
Page
of 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2022
Response to Leidi et al
Adeline Vanderver, Ralf A Husain
Frontiers in Immunology
|
August 28, 2020
mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance
Kristin Ludwig, Ralf A Husain, Ignacio Rubio
Orphanet Journal of Rare Diseases
|
September 11, 2020
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data
Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, et al.
Journal of Neuromuscular Diseases
|
December 3, 2023
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, et al.
Annals of Hematology
|
November 10, 2010
Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma
Ellen Ritter, Ralf A Husain, Katrin Hinderhofer, et al.
European Journal of Immunology
|
March 25, 2022
The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation
Mohamed Ghait, Ralf A Husain, Shivalee N Duduskar, et al.
Molecular Syndromology
|
October 3, 2024
<i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome
Miriam Bertrand, Gulalai Shah, Brent S Pedersen, et al.
Neuropediatrics
|
December 1, 2021
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Johanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, et al.
Npj Metabolic Health and Disease
|
May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
Gabriella Allegri, Martin Poms, Nadia Zürcher, et al.
Der Nervenarzt
|
May 13, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]
Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, et al.
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