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Saskia Biskup

Showing results (31-40 of 226) with videos related to

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Journal of Neurology|September 20, 2008
Genes associated with Parkinson syndromeSaskia Biskup, Manfred Gerlach, Andreas Kupsch, et al.
Muscle & Nerve|November 23, 2016
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathyFederica Montagnese, Elisabeth Klupp, Dimitrios C Karampinos, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Dennis Döcker, Max Schubach, Moritz Menzel, et al.
Swiss Medical Weekly|November 24, 2016
Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationssMichael Linnebank, Cameron G McDougall, Stefanie Krueger, et al.
BMC Cancer|March 3, 2019
Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomasAnne-Katrin Hickmann, Maximilian Frick, Dirk Hadaschik, et al.
BMC Neurology|June 5, 2014
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceMaik Engeholm, Julia Sekler, David C Schöndorf, et al.
Journal of Medical Genetics|July 14, 2011
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutationMatthis Synofzik, Julia Schicks, Tobias Lindig, et al.
Molecular Syndromology|February 6, 2020
<i>NUP188</i> Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?Anna Sandestig, Karolina Engström, Alexander Pepler, et al.
BMC Genomics|February 26, 2014
Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencingSuparna Mitra, Karin Förster-Fromme, Antje Damms-Machado, et al.
Neuropediatrics|February 3, 2015
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotypeRita Santos-Silva, Armanda Passas, Carla Rocha, et al.
Pageof 23

Showing results (31-40 of 226) with videos related to

Sort By:
Pageof 23
Journal of Neurology|September 20, 2008
Genes associated with Parkinson syndromeSaskia Biskup, Manfred Gerlach, Andreas Kupsch, et al.
Muscle & Nerve|November 23, 2016
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathyFederica Montagnese, Elisabeth Klupp, Dimitrios C Karampinos, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Dennis Döcker, Max Schubach, Moritz Menzel, et al.
Swiss Medical Weekly|November 24, 2016
Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationssMichael Linnebank, Cameron G McDougall, Stefanie Krueger, et al.
BMC Cancer|March 3, 2019
Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomasAnne-Katrin Hickmann, Maximilian Frick, Dirk Hadaschik, et al.
BMC Neurology|June 5, 2014
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceMaik Engeholm, Julia Sekler, David C Schöndorf, et al.
Journal of Medical Genetics|July 14, 2011
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutationMatthis Synofzik, Julia Schicks, Tobias Lindig, et al.
Molecular Syndromology|February 6, 2020
<i>NUP188</i> Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?Anna Sandestig, Karolina Engström, Alexander Pepler, et al.
BMC Genomics|February 26, 2014
Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencingSuparna Mitra, Karin Förster-Fromme, Antje Damms-Machado, et al.
Neuropediatrics|February 3, 2015
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotypeRita Santos-Silva, Armanda Passas, Carla Rocha, et al.
Pageof 23