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Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2015
Mutations in CIZ1 are not a major cause for dystonia in Germany
Claudia Dufke, Ann-Kathrin Hauser, Marc Sturm, et al.
Molecular and Cellular Probes
|
May 17, 2015
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
Stephan Waldmüller, Christopher Schroeder, Marc Sturm, et al.
Molecular Medicine (Cambridge, Mass.)
|
May 27, 2026
Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa
Peggy Reuter, Jennifer Schroeder, Marc Sturm, et al.
Journal of Clinical Medicine
|
October 14, 2022
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Quality assurance within the context of genome diagnostics (a german perspective)
Kraft Florian, Anna Benet-Pagès, Daniel Berner, et al.
Molecular Genetics & Genomic Medicine
|
February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
Dennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
International Journal of Molecular Sciences
|
June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats
Joohyun Park, Claudia Dufke, Zofia Fleszar, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 106) with videos related to
Sort By:
Page
of 11
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2015
Mutations in CIZ1 are not a major cause for dystonia in Germany
Claudia Dufke, Ann-Kathrin Hauser, Marc Sturm, et al.
Molecular and Cellular Probes
|
May 17, 2015
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
Stephan Waldmüller, Christopher Schroeder, Marc Sturm, et al.
Molecular Medicine (Cambridge, Mass.)
|
May 27, 2026
Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa
Peggy Reuter, Jennifer Schroeder, Marc Sturm, et al.
Journal of Clinical Medicine
|
October 14, 2022
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Quality assurance within the context of genome diagnostics (a german perspective)
Kraft Florian, Anna Benet-Pagès, Daniel Berner, et al.
Molecular Genetics & Genomic Medicine
|
February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
Dennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
International Journal of Molecular Sciences
|
June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats
Joohyun Park, Claudia Dufke, Zofia Fleszar, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
Page
of 11