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S Reuter

Showing results (121-130 of 172) with videos related to

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American Journal of Medical Genetics. Part A|July 12, 2020
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndromeMeredith Curtis, Danielle Baribeau, Susan Walker, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|November 28, 2015
Renal Contrast-Enhanced Sonography Findings in a Model of Acute Cellular Allograft RejectionA Grabner, D Kentrup, H Pawelski, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disordersMiriam S Reuter, Jörn Oliver Sass, Thomas Leis, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Journal of Internal Medicine|July 7, 2017
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry diseaseM Lenders, D Oder, A Nowak, et al.
Neuron|October 25, 2016
Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse EliminationMonika S Brill, Tatjana Kleele, Laura Ruschkies, et al.
NPJ Genomic Medicine|November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literatureMiriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.
Communications Biology|July 22, 2023
Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodelingMiriam S Reuter, Dustin J Sokolowski, J Javier Diaz-Mejia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2022
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysisJathishinie Jegathisawaran, Kate Tsiplova, Robin Z Hayeems, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.
Pageof 18

Showing results (121-130 of 172) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|July 12, 2020
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndromeMeredith Curtis, Danielle Baribeau, Susan Walker, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|November 28, 2015
Renal Contrast-Enhanced Sonography Findings in a Model of Acute Cellular Allograft RejectionA Grabner, D Kentrup, H Pawelski, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disordersMiriam S Reuter, Jörn Oliver Sass, Thomas Leis, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Journal of Internal Medicine|July 7, 2017
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry diseaseM Lenders, D Oder, A Nowak, et al.
Neuron|October 25, 2016
Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse EliminationMonika S Brill, Tatjana Kleele, Laura Ruschkies, et al.
NPJ Genomic Medicine|November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literatureMiriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.
Communications Biology|July 22, 2023
Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodelingMiriam S Reuter, Dustin J Sokolowski, J Javier Diaz-Mejia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2022
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysisJathishinie Jegathisawaran, Kate Tsiplova, Robin Z Hayeems, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.
Pageof 18