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Matthias Begemann

Showing results (81-90 of 97) with videos related to

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Nature Communications|September 2, 2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Faisal I Rezwan, Rebecca L Poole, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 15, 2019
Germline <i>GPR161</i> Mutations Predispose to Pediatric MedulloblastomaMatthias Begemann, Sebastian M Waszak, Giles W Robinson, et al.
Frontiers in Immunology|January 2, 2023
Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofilingFelix Schreibing, Monica T Hannani, Hyojin Kim, et al.
Blood|February 27, 2026
MDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURERicha Sharma, Senthil Velan Bhoopalan, Robert Meyer, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.
The Journal of Clinical Investigation|May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammationEva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
Pageof 10

Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
Nature Communications|September 2, 2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Faisal I Rezwan, Rebecca L Poole, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 15, 2019
Germline <i>GPR161</i> Mutations Predispose to Pediatric MedulloblastomaMatthias Begemann, Sebastian M Waszak, Giles W Robinson, et al.
Frontiers in Immunology|January 2, 2023
Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofilingFelix Schreibing, Monica T Hannani, Hyojin Kim, et al.
Blood|February 27, 2026
MDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURERicha Sharma, Senthil Velan Bhoopalan, Robert Meyer, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.
The Journal of Clinical Investigation|May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammationEva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
Pageof 10