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Christian Beetz

Showing results (1-10 of 160) with videos related to

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Journal of Neural Transmission (Vienna, Austria : 1996)|April 20, 2021
The importance of genetic testing for dystonia patients and translational researchJelena Pozojevic, Christian Beetz, Ana Westenberger
International Journal of Clinical Practice|May 30, 2021
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) studyTimothy M Reynolds, Anthony S Wierzbicki, Volha Skrahina, et al.
Neurogenetics|July 28, 2007
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletionChristian Beetz, Anders O H Nygren, Thomas Deufel, et al.
Oncology Reports|January 12, 2005
Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytomaChristian Beetz, Stefan Brodoehl, Stephan Patt, et al.
Gene|January 3, 2012
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis familyMichael Kiehntopf, Rita-Eva Varga, Hans G Koch, et al.
Clinical Genetics|December 21, 2022
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian familySalem Alawbathani, Suliman Khan, Ana Westenberger, et al.
European Journal of Human Genetics : EJHG|February 18, 2021
Reply letter to Battke et alAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Analytical Biochemistry|January 24, 2015
Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clonesEwelina Elert-Dobkowska, J Christopher Hennings, Christian A Hübner, et al.
Neurology|September 4, 2023
Reader Response: <i>D313Y</i> Variant in Fabry Disease: A Systematic Review and Meta-analysisPeter Bauer, Jorge Pinto Basto, Christian Beetz, et al.
The Lancet. Neurology|September 20, 2024
RAB32 mutation in Parkinson's diseaseChristian Beetz, Mandy Radefeldt, Kornelia Tripolszki, et al.
Pageof 16

Showing results (1-10 of 160) with videos related to

Sort By:
Pageof 16
Journal of Neural Transmission (Vienna, Austria : 1996)|April 20, 2021
The importance of genetic testing for dystonia patients and translational researchJelena Pozojevic, Christian Beetz, Ana Westenberger
International Journal of Clinical Practice|May 30, 2021
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) studyTimothy M Reynolds, Anthony S Wierzbicki, Volha Skrahina, et al.
Neurogenetics|July 28, 2007
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletionChristian Beetz, Anders O H Nygren, Thomas Deufel, et al.
Oncology Reports|January 12, 2005
Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytomaChristian Beetz, Stefan Brodoehl, Stephan Patt, et al.
Gene|January 3, 2012
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis familyMichael Kiehntopf, Rita-Eva Varga, Hans G Koch, et al.
Clinical Genetics|December 21, 2022
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian familySalem Alawbathani, Suliman Khan, Ana Westenberger, et al.
European Journal of Human Genetics : EJHG|February 18, 2021
Reply letter to Battke et alAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Analytical Biochemistry|January 24, 2015
Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clonesEwelina Elert-Dobkowska, J Christopher Hennings, Christian A Hübner, et al.
Neurology|September 4, 2023
Reader Response: <i>D313Y</i> Variant in Fabry Disease: A Systematic Review and Meta-analysisPeter Bauer, Jorge Pinto Basto, Christian Beetz, et al.
The Lancet. Neurology|September 20, 2024
RAB32 mutation in Parkinson's diseaseChristian Beetz, Mandy Radefeldt, Kornelia Tripolszki, et al.
Pageof 16