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Showing results (1001-1010 of 1,073) with videos related to
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Journal of Inherited Metabolic Disease
|
November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Christian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 10, 2026
Use of a cytochrome P450 humanized mouse model to refine schistosomiasis drug discovery
Sarah D Davey, Josephine E Forde-Thomas, Benjamin J Hulme, et al.
American Journal of Human Genetics
|
June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Tobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics
|
February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Theresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics
|
August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Estelle Colin, Jens Daniel, Alban Ziegler, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
August 31, 2015
Glycogen synthase kinase-3β modulation of glucocorticoid responsiveness in COPD
Anta Ngkelo, Roland F Hoffmann, Andrew L Durham, et al.
Brain : a Journal of Neurology
|
September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Eva Morava, Ron A Wevers, Vincent Cantagrel, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Clinical Immunology
|
February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.
Page
of 108
Search research articles
Search
Showing results (1001-1010 of 1,073) with videos related to
Sort By:
Page
of 108
Journal of Inherited Metabolic Disease
|
November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Christian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 10, 2026
Use of a cytochrome P450 humanized mouse model to refine schistosomiasis drug discovery
Sarah D Davey, Josephine E Forde-Thomas, Benjamin J Hulme, et al.
American Journal of Human Genetics
|
June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Tobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics
|
February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Theresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics
|
August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Estelle Colin, Jens Daniel, Alban Ziegler, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
August 31, 2015
Glycogen synthase kinase-3β modulation of glucocorticoid responsiveness in COPD
Anta Ngkelo, Roland F Hoffmann, Andrew L Durham, et al.
Brain : a Journal of Neurology
|
September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Eva Morava, Ron A Wevers, Vincent Cantagrel, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Clinical Immunology
|
February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.
Page
of 108