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Christian Beetz

Showing results (41-50 of 160) with videos related to

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International Journal of Molecular Sciences|February 25, 2023
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher DiseaseTama Dinur, Peter Bauer, Christian Beetz, et al.
Neurocase|January 5, 2022
Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulationAntonia Lefter, Iulia Mitrea, Dan Mitrea, et al.
Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
International Journal of Molecular Sciences|May 13, 2026
Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher DiseaseTama Dinur, Peter Bauer, Sabine Schroeder, et al.
Clinical Genetics|March 1, 2022
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial featuresAzza Salah, Mohammed Almannai, Mode Al Ojaimi, et al.
Molecular Genetics & Genomic Medicine|July 19, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assayAmir Jahic, Sven Günther, Nicole Muschol, et al.
Journal of Medical Genetics|March 4, 2011
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic featuresMatthis Synofzik, Christian Beetz, Claudia Bauer, et al.
International Journal of Molecular Sciences|February 15, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?Tama Dinur, Peter Bauer, Christian Beetz, et al.
Journal of the Neurological Sciences|January 15, 2008
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspotsChristian Beetz, Rebecca Schüle, Stephan Klebe, et al.
BMC Neurology|March 11, 2010
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsMark Braschinsky, Riin Tamm, Christian Beetz, et al.
Pageof 16

Showing results (41-50 of 160) with videos related to

Sort By:
Pageof 16
International Journal of Molecular Sciences|February 25, 2023
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher DiseaseTama Dinur, Peter Bauer, Christian Beetz, et al.
Neurocase|January 5, 2022
Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulationAntonia Lefter, Iulia Mitrea, Dan Mitrea, et al.
Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
International Journal of Molecular Sciences|May 13, 2026
Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher DiseaseTama Dinur, Peter Bauer, Sabine Schroeder, et al.
Clinical Genetics|March 1, 2022
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial featuresAzza Salah, Mohammed Almannai, Mode Al Ojaimi, et al.
Molecular Genetics & Genomic Medicine|July 19, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assayAmir Jahic, Sven Günther, Nicole Muschol, et al.
Journal of Medical Genetics|March 4, 2011
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic featuresMatthis Synofzik, Christian Beetz, Claudia Bauer, et al.
International Journal of Molecular Sciences|February 15, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?Tama Dinur, Peter Bauer, Christian Beetz, et al.
Journal of the Neurological Sciences|January 15, 2008
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspotsChristian Beetz, Rebecca Schüle, Stephan Klebe, et al.
BMC Neurology|March 11, 2010
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsMark Braschinsky, Riin Tamm, Christian Beetz, et al.
Pageof 16