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P Freisinger

Showing results (21-30 of 31) with videos related to

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Neuropediatrics|June 24, 2010
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defectM Herzer, J Koch, H Prokisch, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horváth, P Freisinger, R Rubio, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
Human Molecular Genetics|December 26, 2001
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblastsM Jaksch, C Paret, R Stucka, et al.
Neurology|October 24, 2001
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathyM Jaksch, R Horvath, N Horn, et al.
BMC Pediatrics|November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndromeS C Grünert, A Schumann, P Freisinger, et al.
Nature Genetics|March 4, 2000
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisV L Ruiz-Perez, S E Ide, T M Strom, et al.
Human Genetics|August 2, 2001
A molecular approach to dominance in hypophosphatasiaA S Lia-Baldini, F Muller, A Taillandier, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaE Mornet, A Taillandier, S Peyramaure, et al.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Neuropediatrics|June 24, 2010
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defectM Herzer, J Koch, H Prokisch, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horváth, P Freisinger, R Rubio, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
Human Molecular Genetics|December 26, 2001
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblastsM Jaksch, C Paret, R Stucka, et al.
Neurology|October 24, 2001
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathyM Jaksch, R Horvath, N Horn, et al.
BMC Pediatrics|November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndromeS C Grünert, A Schumann, P Freisinger, et al.
Nature Genetics|March 4, 2000
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisV L Ruiz-Perez, S E Ide, T M Strom, et al.
Human Genetics|August 2, 2001
A molecular approach to dominance in hypophosphatasiaA S Lia-Baldini, F Muller, A Taillandier, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaE Mornet, A Taillandier, S Peyramaure, et al.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Pageof 4