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T Deufel

Showing results (41-50 of 71) with videos related to

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HNO|December 11, 2007
[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]D Bönsch, C M Schmidt, P Scheer, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1991
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficienciesJ Müller-Höcker, H Ibel, I Paetzke, et al.
Human Molecular Genetics|July 1, 1993
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defectR Sudbrak, A Golla, K Hogan, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 1, 1994
Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samplesR Rossi, S Danzebrink, K Linnenbürger, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutationsT Deufel, W Müller-Felber, D E Pongratz, et al.
European Journal of Pediatrics|August 1, 1993
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaH Ibel, W Endres, H B Hadorn, et al.
Klinische Wochenschrift|December 15, 1986
Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of riboseN Zöllner, S Reiter, M Gross, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiencyK P Zimmer, T Matsuura, J P Colombo, et al.
Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie|April 1, 1990
Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathiesK D Gerbitz, B Obermaier-Kusser, P Lestienne, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locusD Bönsch, P Scheer, C Neumann, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
HNO|December 11, 2007
[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]D Bönsch, C M Schmidt, P Scheer, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1991
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficienciesJ Müller-Höcker, H Ibel, I Paetzke, et al.
Human Molecular Genetics|July 1, 1993
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defectR Sudbrak, A Golla, K Hogan, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 1, 1994
Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samplesR Rossi, S Danzebrink, K Linnenbürger, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutationsT Deufel, W Müller-Felber, D E Pongratz, et al.
European Journal of Pediatrics|August 1, 1993
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaH Ibel, W Endres, H B Hadorn, et al.
Klinische Wochenschrift|December 15, 1986
Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of riboseN Zöllner, S Reiter, M Gross, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiencyK P Zimmer, T Matsuura, J P Colombo, et al.
Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie|April 1, 1990
Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathiesK D Gerbitz, B Obermaier-Kusser, P Lestienne, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locusD Bönsch, P Scheer, C Neumann, et al.
Pageof 8