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Bernt Popp

Showing results (31-40 of 86) with videos related to

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Computational and Structural Biotechnology Journal|February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentJulian Schröter, Tal Dattner, Jennifer Hüllein, et al.
European Journal of Medical Genetics|May 22, 2026
A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris SyndromeSarah Schuhmann, Elisabeth Bosch, Andreas Fink, et al.
Scientific Reports|July 2, 2015
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsKristin Kessler, Ina Wunderlich, Steffen Uebe, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi SyndromeElisabeth Bosch, Moritz Hebebrand, Bernt Popp, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domainSonja Neuser, Ilona Krey, Annemarie Schwan, et al.
Scientific Reports|November 23, 2018
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS ConsortiumBernt Popp, Mandy Krumbiegel, Janina Grosch, et al.
BMC Medical Imaging|July 31, 2020
Breast MRI texture analysis for prediction of BRCA-associated genetic riskGeorgia Vasileiou, Maria J Costa, Christopher Long, et al.
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Pageof 9

Showing results (31-40 of 86) with videos related to

Sort By:
Pageof 9
Computational and Structural Biotechnology Journal|February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentJulian Schröter, Tal Dattner, Jennifer Hüllein, et al.
European Journal of Medical Genetics|May 22, 2026
A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris SyndromeSarah Schuhmann, Elisabeth Bosch, Andreas Fink, et al.
Scientific Reports|July 2, 2015
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsKristin Kessler, Ina Wunderlich, Steffen Uebe, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi SyndromeElisabeth Bosch, Moritz Hebebrand, Bernt Popp, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domainSonja Neuser, Ilona Krey, Annemarie Schwan, et al.
Scientific Reports|November 23, 2018
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS ConsortiumBernt Popp, Mandy Krumbiegel, Janina Grosch, et al.
BMC Medical Imaging|July 31, 2020
Breast MRI texture analysis for prediction of BRCA-associated genetic riskGeorgia Vasileiou, Maria J Costa, Christopher Long, et al.
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Pageof 9