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JIMD reports

Showing results (501-510 of 1,250) with videos related to

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JIMD Reports|August 26, 2017
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewEmma Medford, Dougal Julian Hare, Anja Wittkowski
JIMD Reports|October 7, 2017
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese BrothersI Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, et al.
JIMD Reports|November 18, 2015
Multiple, Successful Pregnancies in Pompe DiseaseUrsula Plöckinger, Nikolaus Tiling, Lenka Bosanska, et al.
JIMD Reports|December 20, 2015
The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New AnalysisP A Portnoi, A MacDonald
JIMD Reports|November 22, 2015
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesHeather M Byers, Robin L Bennett, Emily A Malouf, et al.
JIMD Reports|November 27, 2015
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC DefectJenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, et al.
JIMD Reports|November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VIDenise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
JIMD Reports|May 22, 2016
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Ivo Barić, Sahin Erdol, Halil Saglam, et al.
JIMD Reports|November 5, 2014
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype CorrelationAllan Bayat, Mette Christensen, Flemming Wibrand, et al.
JIMD Reports|June 14, 2016
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in SiblingsAnnely Richardson, Gerard T Berry, Cheryl Garganta, et al.
Pageof 125

Showing results (501-510 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|August 26, 2017
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewEmma Medford, Dougal Julian Hare, Anja Wittkowski
JIMD Reports|October 7, 2017
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese BrothersI Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, et al.
JIMD Reports|November 18, 2015
Multiple, Successful Pregnancies in Pompe DiseaseUrsula Plöckinger, Nikolaus Tiling, Lenka Bosanska, et al.
JIMD Reports|December 20, 2015
The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New AnalysisP A Portnoi, A MacDonald
JIMD Reports|November 22, 2015
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesHeather M Byers, Robin L Bennett, Emily A Malouf, et al.
JIMD Reports|November 27, 2015
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC DefectJenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, et al.
JIMD Reports|November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VIDenise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
JIMD Reports|May 22, 2016
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Ivo Barić, Sahin Erdol, Halil Saglam, et al.
JIMD Reports|November 5, 2014
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype CorrelationAllan Bayat, Mette Christensen, Flemming Wibrand, et al.
JIMD Reports|June 14, 2016
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in SiblingsAnnely Richardson, Gerard T Berry, Cheryl Garganta, et al.
Pageof 125