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S Reuter

Showing results (151-160 of 172) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Infection|September 17, 2013
Therapy and prophylaxis of opportunistic infections in HIV-infected patients: a guideline by the German and Austrian AIDS societies (DAIG/ÖAG) (AWMF 055/066)J Thoden, A Potthoff, J R Bogner, et al.
Stem Cell Reports|December 10, 2019
Precision Health Resource of Control iPSC Lines for Versatile Multilineage DifferentiationMatthew R Hildebrandt, Miriam S Reuter, Wei Wei, et al.
NPJ Genomic Medicine|November 5, 2021
A recurrent SHANK3 frameshift variant in Autism Spectrum DisorderLivia O Loureiro, Jennifer L Howe, Miriam S Reuter, et al.
Pageof 18

Showing results (151-160 of 172) with videos related to

Sort By:
Pageof 18
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Infection|September 17, 2013
Therapy and prophylaxis of opportunistic infections in HIV-infected patients: a guideline by the German and Austrian AIDS societies (DAIG/ÖAG) (AWMF 055/066)J Thoden, A Potthoff, J R Bogner, et al.
Stem Cell Reports|December 10, 2019
Precision Health Resource of Control iPSC Lines for Versatile Multilineage DifferentiationMatthew R Hildebrandt, Miriam S Reuter, Wei Wei, et al.
NPJ Genomic Medicine|November 5, 2021
A recurrent SHANK3 frameshift variant in Autism Spectrum DisorderLivia O Loureiro, Jennifer L Howe, Miriam S Reuter, et al.
Pageof 18