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Matthias Begemann

Showing results (61-70 of 97) with videos related to

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Deutsches Arzteblatt International|March 9, 2023
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual DisabilityCordula Knopp, Robin Steiner, Eva Lausberg, et al.
Clinical Genetics|December 12, 2024
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot StudyLuise Kessler, Jeremias Krause, Florian Kraft, et al.
Nature Reviews. Disease Primers|June 29, 2023
Imprinting disordersThomas Eggermann, David Monk, Guiomar Perez de Nanclares, et al.
Clinical Epigenetics|March 1, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approachLarissa Bilo, Eguzkine Ochoa, Sunwoo Lee, et al.
The Journal of Pediatrics|June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell featuresSabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndromeRobert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
The Journal of Clinical Investigation|January 9, 2019
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humansGergely Karsai, Florian Kraft, Natja Haag, et al.
European Journal of Human Genetics : EJHG|August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityNatja Haag, Ene-Choo Tan, Matthias Begemann, et al.
Communications Biology|May 20, 2021
DNA methylation changes during long-term in vitro cell culture are caused by epigenetic driftJulia Franzen, Theodoros Georgomanolis, Anton Selich, et al.
Annals of the New York Academy of Sciences|October 25, 2019
Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathiesMonica S Ventura Ferreira, Martin Kirschner, Insa Halfmeyer, et al.
Pageof 10

Showing results (61-70 of 97) with videos related to

Sort By:
Pageof 10
Deutsches Arzteblatt International|March 9, 2023
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual DisabilityCordula Knopp, Robin Steiner, Eva Lausberg, et al.
Clinical Genetics|December 12, 2024
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot StudyLuise Kessler, Jeremias Krause, Florian Kraft, et al.
Nature Reviews. Disease Primers|June 29, 2023
Imprinting disordersThomas Eggermann, David Monk, Guiomar Perez de Nanclares, et al.
Clinical Epigenetics|March 1, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approachLarissa Bilo, Eguzkine Ochoa, Sunwoo Lee, et al.
The Journal of Pediatrics|June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell featuresSabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndromeRobert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
The Journal of Clinical Investigation|January 9, 2019
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humansGergely Karsai, Florian Kraft, Natja Haag, et al.
European Journal of Human Genetics : EJHG|August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityNatja Haag, Ene-Choo Tan, Matthias Begemann, et al.
Communications Biology|May 20, 2021
DNA methylation changes during long-term in vitro cell culture are caused by epigenetic driftJulia Franzen, Theodoros Georgomanolis, Anton Selich, et al.
Annals of the New York Academy of Sciences|October 25, 2019
Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathiesMonica S Ventura Ferreira, Martin Kirschner, Insa Halfmeyer, et al.
Pageof 10