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European Journal of Pediatrics
|
October 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
Michelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG
|
August 21, 2025
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Maayke A de Koning, Malgorzata I Srebniak, Esther J Oldekamp, et al.
Human Pathology
|
April 13, 2022
Mismatch repair deficiency and MUTYH variants in small intestine-neuroendocrine tumors
Noah C Helderman, Fadwa A Elsayed, Tom van Wezel, et al.
Frontiers in Oncology
|
March 10, 2023
PMS2-associated Lynch syndrome: Past, present and future
Katarina D Andini, Maartje Nielsen, Manon Suerink, et al.
Frontiers in Immunology
|
September 12, 2019
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
Hanna IJspeert, Pauline A van Schouwenburg, Ingrid Pico-Knijnenburg, et al.
Journal of Medical Genetics
|
November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Manon Suerink, Tim Ripperger, Ludwine Messiaen, et al.
Experimental and Molecular Pathology
|
July 24, 2021
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer
Sanne W Bajwa-Ten Broeke, Alexej Ballhausen, Aysel Ahadova, et al.
Gut
|
October 28, 2022
<i>APC</i> mosaicism, not always isolated: two first-degree relatives with apparently distinct <i>APC</i> mosaicism
Diantha Terlouw, Frederik J Hes, Manon Suerink, et al.
BMC Cancer
|
January 18, 2024
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
Diantha Terlouw, Arnoud Boot, Quinten R Ducarmon, et al.
European Journal of Human Genetics : EJHG
|
September 19, 2019
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
Diantha Terlouw, Manon Suerink, Sunny S Singh, et al.
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Search research articles
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Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
European Journal of Pediatrics
|
October 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
Michelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG
|
August 21, 2025
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Maayke A de Koning, Malgorzata I Srebniak, Esther J Oldekamp, et al.
Human Pathology
|
April 13, 2022
Mismatch repair deficiency and MUTYH variants in small intestine-neuroendocrine tumors
Noah C Helderman, Fadwa A Elsayed, Tom van Wezel, et al.
Frontiers in Oncology
|
March 10, 2023
PMS2-associated Lynch syndrome: Past, present and future
Katarina D Andini, Maartje Nielsen, Manon Suerink, et al.
Frontiers in Immunology
|
September 12, 2019
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
Hanna IJspeert, Pauline A van Schouwenburg, Ingrid Pico-Knijnenburg, et al.
Journal of Medical Genetics
|
November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Manon Suerink, Tim Ripperger, Ludwine Messiaen, et al.
Experimental and Molecular Pathology
|
July 24, 2021
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer
Sanne W Bajwa-Ten Broeke, Alexej Ballhausen, Aysel Ahadova, et al.
Gut
|
October 28, 2022
<i>APC</i> mosaicism, not always isolated: two first-degree relatives with apparently distinct <i>APC</i> mosaicism
Diantha Terlouw, Frederik J Hes, Manon Suerink, et al.
BMC Cancer
|
January 18, 2024
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
Diantha Terlouw, Arnoud Boot, Quinten R Ducarmon, et al.
European Journal of Human Genetics : EJHG
|
September 19, 2019
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
Diantha Terlouw, Manon Suerink, Sunny S Singh, et al.
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