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Andreas Laner

Showing results (31-40 of 48) with videos related to

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Journal of Medical Genetics|December 16, 2021
Constitutional chromothripsis of the <i>APC</i> locus as a cause of genetic predisposition to colon cancerFlorentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
Pediatric Research|December 25, 2013
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studiesGordian L Schmid, Franziska Kässner, Holm H Uhlig, et al.
European Journal of Medical Genetics|March 14, 2022
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RDAnna K Sommer, Iris B A W Te Paske, José Garcia-Pelaez, et al.
Familial Cancer|January 19, 2016
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposisIsabel Spier, Martin Kerick, Dmitriy Drichel, et al.
Journal of Medical Genetics|November 29, 2015
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis casesIsabel Spier, Dmitriy Drichel, Martin Kerick, et al.
Acta Neuropathologica Communications|February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndromeAdela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Human Mutation|July 29, 2018
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesJorge Oliveira, Angela Gruber, Márcio Cardoso, et al.
Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Journal of Medical Genetics|December 16, 2021
Constitutional chromothripsis of the <i>APC</i> locus as a cause of genetic predisposition to colon cancerFlorentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
Pediatric Research|December 25, 2013
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studiesGordian L Schmid, Franziska Kässner, Holm H Uhlig, et al.
European Journal of Medical Genetics|March 14, 2022
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RDAnna K Sommer, Iris B A W Te Paske, José Garcia-Pelaez, et al.
Familial Cancer|January 19, 2016
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposisIsabel Spier, Martin Kerick, Dmitriy Drichel, et al.
Journal of Medical Genetics|November 29, 2015
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis casesIsabel Spier, Dmitriy Drichel, Martin Kerick, et al.
Acta Neuropathologica Communications|February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndromeAdela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Human Mutation|July 29, 2018
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesJorge Oliveira, Angela Gruber, Márcio Cardoso, et al.
Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
Pageof 5