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Christian Beetz

Showing results (31-40 of 160) with videos related to

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Laboratory Medicine|August 10, 2024
Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boyShifaniya Banu Mohideen, Pitipanage Mihika Samindi Fernando, Christian Beetz, et al.
Genes|April 30, 2021
Novel Autosomal Recessive Splice-Altering Variant in <i>PRKD1</i> Is Associated with Congenital Heart DiseaseSalam Massadeh, Maha Albeladi, Nour Albesher, et al.
International Journal of Oncology|October 4, 2006
Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathologyChristian Beetz, Sven Bergner, Stefan Brodoehl, et al.
Neurosurgical Review|March 3, 2007
A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both componentsSusanne A Kuhn, Uwe-Karsten Hanisch, Kristian Ebmeier, et al.
Human Mutation|January 31, 2014
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biologyJulia Falk, Magdalena Rohde, Mohamed M Bekhite, et al.
Life (Basel, Switzerland)|December 23, 2023
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer PatientsMandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, et al.
Journal of the Neurological Sciences|December 3, 2014
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8Amir Jahic, Friedmar Kreuz, Pia Zacher, et al.
Analytical Biochemistry|January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positivesRita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Journal of Neurology|December 16, 2024
Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71ArgAndrea Panzavolta, Francesco Cavallieri, Franco Valzania, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Pageof 16

Showing results (31-40 of 160) with videos related to

Sort By:
Pageof 16
Laboratory Medicine|August 10, 2024
Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boyShifaniya Banu Mohideen, Pitipanage Mihika Samindi Fernando, Christian Beetz, et al.
Genes|April 30, 2021
Novel Autosomal Recessive Splice-Altering Variant in <i>PRKD1</i> Is Associated with Congenital Heart DiseaseSalam Massadeh, Maha Albeladi, Nour Albesher, et al.
International Journal of Oncology|October 4, 2006
Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathologyChristian Beetz, Sven Bergner, Stefan Brodoehl, et al.
Neurosurgical Review|March 3, 2007
A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both componentsSusanne A Kuhn, Uwe-Karsten Hanisch, Kristian Ebmeier, et al.
Human Mutation|January 31, 2014
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biologyJulia Falk, Magdalena Rohde, Mohamed M Bekhite, et al.
Life (Basel, Switzerland)|December 23, 2023
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer PatientsMandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, et al.
Journal of the Neurological Sciences|December 3, 2014
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8Amir Jahic, Friedmar Kreuz, Pia Zacher, et al.
Analytical Biochemistry|January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positivesRita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Journal of Neurology|December 16, 2024
Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71ArgAndrea Panzavolta, Francesco Cavallieri, Franco Valzania, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Pageof 16