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Claudia Perne

Showing results (11-20 of 27) with videos related to

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International Journal of Cancer|September 15, 2020
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndromeSwetlana Ladigan-Badura, Deepak B Vangala, Christoph Engel, et al.
Zeitschrift Fur Gastroenterologie|November 19, 2019
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]Robert Hüneburg, Stefan Aretz, Reinhard Büttner, et al.
International Journal of Cancer|September 3, 2020
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnosticsHendrik Bläker, Saskia Haupt, Monika Morak, et al.
Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.
Molecular Psychiatry|October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delaySenwei Tan, Qiumeng Zhang, Rui Zhan, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Journal of Clinical Medicine|July 26, 2020
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome DatabaseMev Dominguez-Valentin, Toni T Seppälä, Christoph Engel, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
International Journal of Cancer|September 15, 2020
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndromeSwetlana Ladigan-Badura, Deepak B Vangala, Christoph Engel, et al.
Zeitschrift Fur Gastroenterologie|November 19, 2019
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]Robert Hüneburg, Stefan Aretz, Reinhard Büttner, et al.
International Journal of Cancer|September 3, 2020
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnosticsHendrik Bläker, Saskia Haupt, Monika Morak, et al.
Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.
Molecular Psychiatry|October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delaySenwei Tan, Qiumeng Zhang, Rui Zhan, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Journal of Clinical Medicine|July 26, 2020
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome DatabaseMev Dominguez-Valentin, Toni T Seppälä, Christoph Engel, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Pageof 3