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JIMD reports

Showing results (421-430 of 1,250) with videos related to

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JIMD Reports|July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndromeRenzo Manara, Daniela Concolino, Angelica Rampazzo, et al.
JIMD Reports|July 4, 2013
Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotesKlaus Harzer, Stefanie Beck-Wödl, Peter Bauer
JIMD Reports|April 30, 2013
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New CasesPauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, et al.
JIMD Reports|November 6, 2013
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous FemalesS Dreha-Kulaczewski, V Kalscheuer, A Tzschach, et al.
JIMD Reports|November 6, 2013
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 MutationBryce A Mendelsohn, Neil Mehta, Bilal Hameed, et al.
JIMD Reports|November 7, 2013
Application of a second-tier newborn screening assay for c5 isoformsT Cloppenborg, N Janzen, Hj Wagner, et al.
JIMD Reports|October 30, 2013
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndromeFelix Distelmaier, Peter Huppke, Peter Pieperhoff, et al.
JIMD Reports|October 19, 2013
High dietary folic Acid and high plasma folate in children and adults with phenylketonuriaLinn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, et al.
JIMD Reports|October 22, 2013
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndromeA C C Ho, C W Fung, T S Siu, et al.
JIMD Reports|October 22, 2013
Liver engraftment and repopulation by in vitro expanded adult derived human liver stem cells in a child with ornithine carbamoyltransferase deficiencyEtienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, et al.
Pageof 125

Showing results (421-430 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndromeRenzo Manara, Daniela Concolino, Angelica Rampazzo, et al.
JIMD Reports|July 4, 2013
Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotesKlaus Harzer, Stefanie Beck-Wödl, Peter Bauer
JIMD Reports|April 30, 2013
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New CasesPauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, et al.
JIMD Reports|November 6, 2013
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous FemalesS Dreha-Kulaczewski, V Kalscheuer, A Tzschach, et al.
JIMD Reports|November 6, 2013
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 MutationBryce A Mendelsohn, Neil Mehta, Bilal Hameed, et al.
JIMD Reports|November 7, 2013
Application of a second-tier newborn screening assay for c5 isoformsT Cloppenborg, N Janzen, Hj Wagner, et al.
JIMD Reports|October 30, 2013
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndromeFelix Distelmaier, Peter Huppke, Peter Pieperhoff, et al.
JIMD Reports|October 19, 2013
High dietary folic Acid and high plasma folate in children and adults with phenylketonuriaLinn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, et al.
JIMD Reports|October 22, 2013
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndromeA C C Ho, C W Fung, T S Siu, et al.
JIMD Reports|October 22, 2013
Liver engraftment and repopulation by in vitro expanded adult derived human liver stem cells in a child with ornithine carbamoyltransferase deficiencyEtienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, et al.
Pageof 125