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JIMD reports

Showing results (541-550 of 1,250) with videos related to

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JIMD Reports|February 15, 2015
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and HyponatraemiaMarcus Brecht, Malcolm Richardson, Ajay Taranath, et al.
JIMD Reports|February 19, 2015
Severe neonatal holocarboxylase synthetase deficiency in west african siblingsMauricio De Castro, Dina J Zand, Uta Lichter-Konecki, et al.
JIMD Reports|February 22, 2015
A Retrospective Survey Studying the Impact of Fabry Disease on PregnancyAlexandrea Holmes, Dawn Laney
JIMD Reports|January 24, 2015
Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe diseaseErin R McNamara, Stephanie Austin, Laura Case, et al.
JIMD Reports|February 2, 2015
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease PhenotypeEun-Young Choi, Keyur Patel, Marie Reine Haddad, et al.
JIMD Reports|January 22, 2015
Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight DecadesSeemin S Ahmed, Guangping Gao
JIMD Reports|February 11, 2015
Disordered Eating and Body Esteem Among Individuals with Glycogen Storage DiseaseTheresa B Flanagan, Jill A Sutton, Laurie M Brown, et al.
JIMD Reports|February 11, 2015
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?Z Grover, P Lewindon, A Clousten, et al.
JIMD Reports|March 13, 2015
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 TrialsMichel Mazzuca, Marie-Anne Maubert, Léna Damaj, et al.
JIMD Reports|February 26, 2015
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal CharacteristicsS E Waisbren, F Rohr, V Anastasoaie, et al.
Pageof 125

Showing results (541-550 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 15, 2015
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and HyponatraemiaMarcus Brecht, Malcolm Richardson, Ajay Taranath, et al.
JIMD Reports|February 19, 2015
Severe neonatal holocarboxylase synthetase deficiency in west african siblingsMauricio De Castro, Dina J Zand, Uta Lichter-Konecki, et al.
JIMD Reports|February 22, 2015
A Retrospective Survey Studying the Impact of Fabry Disease on PregnancyAlexandrea Holmes, Dawn Laney
JIMD Reports|January 24, 2015
Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe diseaseErin R McNamara, Stephanie Austin, Laura Case, et al.
JIMD Reports|February 2, 2015
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease PhenotypeEun-Young Choi, Keyur Patel, Marie Reine Haddad, et al.
JIMD Reports|January 22, 2015
Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight DecadesSeemin S Ahmed, Guangping Gao
JIMD Reports|February 11, 2015
Disordered Eating and Body Esteem Among Individuals with Glycogen Storage DiseaseTheresa B Flanagan, Jill A Sutton, Laurie M Brown, et al.
JIMD Reports|February 11, 2015
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?Z Grover, P Lewindon, A Clousten, et al.
JIMD Reports|March 13, 2015
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 TrialsMichel Mazzuca, Marie-Anne Maubert, Léna Damaj, et al.
JIMD Reports|February 26, 2015
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal CharacteristicsS E Waisbren, F Rohr, V Anastasoaie, et al.
Pageof 125