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Journal of Medical Genetics
|
May 25, 2020
Paternal 132 bp deletion affecting <i>KCNQ1OT1</i> in 11p15.5 is associated with growth retardation but does not affect imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, et al.
Journal of Medical Case Reports
|
February 24, 2026
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, et al.
BMC Bioinformatics
|
December 17, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants
Jeremias Krause, Carlos Classen, Daniela Dey, et al.
Journal of Medical Genetics
|
June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorder
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
December 22, 2021
A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats
Claudia Seikrit, Eva Lausberg, Eva Miriam Buhl, et al.
Scientific Reports
|
May 2, 2018
Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription
Mareike Bütepage, Christian Preisinger, Alexander von Kriegsheim, et al.
Deutsches Arzteblatt International
|
March 19, 2026
Exome and Genome Sequencing for the Diagnosis of Rare Diseases
Miriam Elbracht, Jeremias Krause, Larissa Mattern, et al.
Brain : a Journal of Neurology
|
August 12, 2020
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
Carola Hedberg-Oldfors, Robert Meyer, Kay Nolte, et al.
The Journal of Clinical Investigation
|
May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Frontiers in Cell and Developmental Biology
|
February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Journal of Medical Genetics
|
May 25, 2020
Paternal 132 bp deletion affecting <i>KCNQ1OT1</i> in 11p15.5 is associated with growth retardation but does not affect imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, et al.
Journal of Medical Case Reports
|
February 24, 2026
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, et al.
BMC Bioinformatics
|
December 17, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants
Jeremias Krause, Carlos Classen, Daniela Dey, et al.
Journal of Medical Genetics
|
June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorder
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
December 22, 2021
A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats
Claudia Seikrit, Eva Lausberg, Eva Miriam Buhl, et al.
Scientific Reports
|
May 2, 2018
Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription
Mareike Bütepage, Christian Preisinger, Alexander von Kriegsheim, et al.
Deutsches Arzteblatt International
|
March 19, 2026
Exome and Genome Sequencing for the Diagnosis of Rare Diseases
Miriam Elbracht, Jeremias Krause, Larissa Mattern, et al.
Brain : a Journal of Neurology
|
August 12, 2020
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
Carola Hedberg-Oldfors, Robert Meyer, Kay Nolte, et al.
The Journal of Clinical Investigation
|
May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Frontiers in Cell and Developmental Biology
|
February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Page
of 2