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Aline Cano

Showing results (11-20 of 54) with videos related to

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International Journal of Molecular Sciences|May 14, 2022
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with <i>SPEG</i> Compound Heterozygous VariantsHager Jaouadi, Fedoua El Louali, Chloé Wanert, et al.
Clinical Nuclear Medicine|December 19, 2008
Multiple distal pulmonary arterial thromboses revealed by lung scintigraphy in a patient with homocystinuria and normal multidetector CT pulmonary angiographyLaurent Tessonnier, Eric Guedj, Aline Cano, et al.
Health and Quality of Life Outcomes|September 21, 2013
Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional studyAlexandre Fabre, Karine Baumstarck, Aline Cano, et al.
JIMD Reports|July 21, 2020
<i>COQ6</i> mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophyR Justine Perrin, Caroline Rousset-Rouvière, Florentine Garaix, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 21, 2020
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohortBastien Estublier, Aline Cano, Célia Hoebeke, et al.
Human Mutation|December 18, 2004
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneFabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, et al.
Molecular Genetics and Metabolism|February 7, 2012
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1Mathieu Milh, Ana Pop, Warsha Kanhai, et al.
Annals of Neurology|March 30, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndromeAnnabelle Chaussenot, Sylvie Bannwarth, Cecile Rouzier, et al.
Journal of Inherited Metabolic Disease|June 7, 2012
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardationRaphaël Teissier, Emmanuel Nowak, Murielle Assoun, et al.
Mitochondrion|February 19, 2011
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemiaKonstantina Fragaki, Aline Cano, Jean-François Benoist, et al.
Pageof 6

Showing results (11-20 of 54) with videos related to

Sort By:
Pageof 6
International Journal of Molecular Sciences|May 14, 2022
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with <i>SPEG</i> Compound Heterozygous VariantsHager Jaouadi, Fedoua El Louali, Chloé Wanert, et al.
Clinical Nuclear Medicine|December 19, 2008
Multiple distal pulmonary arterial thromboses revealed by lung scintigraphy in a patient with homocystinuria and normal multidetector CT pulmonary angiographyLaurent Tessonnier, Eric Guedj, Aline Cano, et al.
Health and Quality of Life Outcomes|September 21, 2013
Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional studyAlexandre Fabre, Karine Baumstarck, Aline Cano, et al.
JIMD Reports|July 21, 2020
<i>COQ6</i> mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophyR Justine Perrin, Caroline Rousset-Rouvière, Florentine Garaix, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 21, 2020
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohortBastien Estublier, Aline Cano, Célia Hoebeke, et al.
Human Mutation|December 18, 2004
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneFabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, et al.
Molecular Genetics and Metabolism|February 7, 2012
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1Mathieu Milh, Ana Pop, Warsha Kanhai, et al.
Annals of Neurology|March 30, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndromeAnnabelle Chaussenot, Sylvie Bannwarth, Cecile Rouzier, et al.
Journal of Inherited Metabolic Disease|June 7, 2012
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardationRaphaël Teissier, Emmanuel Nowak, Murielle Assoun, et al.
Mitochondrion|February 19, 2011
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemiaKonstantina Fragaki, Aline Cano, Jean-François Benoist, et al.
Pageof 6