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Matias Wagner

Showing results (21-30 of 188) with videos related to

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European Journal of Medical Genetics|January 13, 2022
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disabilityMartin Krenn, Sylvia Kepa, Gregor Kasprian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2019
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemiaFabian Baertling, Matias Wagner, Theresa Brunet, et al.
Gene|January 7, 2022
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndromeDominik S Westphal, Elisa Mastantuono, Heide Seidel, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Annals of Clinical and Translational Neurology|December 1, 2020
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathyMelanie Brugger, Fiona Becker-Dettling, Theresa Brunet, et al.
Gene|June 2, 2020
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complexJürgen Klinner, Marcus Krüger, Theresa Brunet, et al.
Journal of Neuromuscular Diseases|September 5, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disordersMartin Krenn, Axel Schmidt, Matias Wagner, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 23, 2020
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutationsAbigail Licata, Timo Grimmer, Juliane Winkelmann, et al.
Pageof 19

Showing results (21-30 of 188) with videos related to

Sort By:
Pageof 19
European Journal of Medical Genetics|January 13, 2022
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disabilityMartin Krenn, Sylvia Kepa, Gregor Kasprian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2019
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemiaFabian Baertling, Matias Wagner, Theresa Brunet, et al.
Gene|January 7, 2022
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndromeDominik S Westphal, Elisa Mastantuono, Heide Seidel, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Annals of Clinical and Translational Neurology|December 1, 2020
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathyMelanie Brugger, Fiona Becker-Dettling, Theresa Brunet, et al.
Gene|June 2, 2020
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complexJürgen Klinner, Marcus Krüger, Theresa Brunet, et al.
Journal of Neuromuscular Diseases|September 5, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disordersMartin Krenn, Axel Schmidt, Matias Wagner, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 23, 2020
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutationsAbigail Licata, Timo Grimmer, Juliane Winkelmann, et al.
Pageof 19