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Journal of Inherited Metabolic Disease
|
June 10, 2010
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
Ulrich A Schatz, Regina Ensenauer
Plos One
|
February 29, 2020
Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction
Eric Soupene, Ulrich A Schatz, Sabine Rudnik-Schöneborn, et al.
Plos One
|
April 21, 2022
Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction
Eric Soupene, Ulrich A Schatz, Sabine Rudnik-Schöneborn, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2020
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye
Laura Pölsler, Ulrich A Schatz, Burkhard Simma, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
Eva Thimm, Anselma Riederer, Jerry Vockley, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
October 24, 2019
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017
Magdalena Seidl-Philipp, Ulrich A Schatz, Irina Gasslitter, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
January 28, 2020
Magdalena Seidl-Philipp, Ulrich A Schatz, Irina Gasslitter, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
Theresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Neurology
|
October 7, 2018
Evidence of mild founder <i>LMOD3</i> mutations causing nemaline myopathy 10 in Germany and Austria
Ulrich A Schatz, Simone Weiss, Stephan Wenninger, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
October 27, 2018
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Philipp Guder, Amelie S Lotz-Havla, Mathias Woidy, et al.
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Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Journal of Inherited Metabolic Disease
|
June 10, 2010
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
Ulrich A Schatz, Regina Ensenauer
Plos One
|
February 29, 2020
Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction
Eric Soupene, Ulrich A Schatz, Sabine Rudnik-Schöneborn, et al.
Plos One
|
April 21, 2022
Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction
Eric Soupene, Ulrich A Schatz, Sabine Rudnik-Schöneborn, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2020
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye
Laura Pölsler, Ulrich A Schatz, Burkhard Simma, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
Eva Thimm, Anselma Riederer, Jerry Vockley, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
October 24, 2019
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017
Magdalena Seidl-Philipp, Ulrich A Schatz, Irina Gasslitter, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
January 28, 2020
Magdalena Seidl-Philipp, Ulrich A Schatz, Irina Gasslitter, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
Theresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Neurology
|
October 7, 2018
Evidence of mild founder <i>LMOD3</i> mutations causing nemaline myopathy 10 in Germany and Austria
Ulrich A Schatz, Simone Weiss, Stephan Wenninger, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
October 27, 2018
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Philipp Guder, Amelie S Lotz-Havla, Mathias Woidy, et al.
Page
of 3