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Genome Medicine
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May 26, 2021
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
Rosanne C van Deuren, Peer Arts, Giulio Cavalli, et al.
Biomolecules
|
January 21, 2023
Genetic Predisposition to Neurological Complications in Patients with COVID-19
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, et al.
HGG Advances
|
January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
Plos One
|
December 24, 2011
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
Sanne P Smeekens, Theo S Plantinga, Frank L van de Veerdonk, et al.
American Journal of Hematology
|
January 2, 2024
A framework for the clinical implementation of optical genome mapping in hematologic malignancies
Brynn Levy, Rashmi Kanagal-Shamanna, Nikhil S Sahajpal, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus
Wolfram Höps, David Porubsky, DongAhn Yoo, et al.
The European Respiratory Journal
|
January 20, 2017
MST1R mutation as a genetic cause of Lady Windermere syndrome
Katharina L Becker, Peer Arts, Martin Jaeger, et al.
HGG Advances
|
May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation
Elke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
Nature Genetics
|
June 21, 2016
Parent-of-origin-specific signatures of de novo mutations
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Nature Genetics
|
October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutations
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Page
of 25
Search research articles
Search
Showing results (91-100 of 249) with videos related to
Sort By:
Page
of 25
Genome Medicine
|
May 26, 2021
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
Rosanne C van Deuren, Peer Arts, Giulio Cavalli, et al.
Biomolecules
|
January 21, 2023
Genetic Predisposition to Neurological Complications in Patients with COVID-19
Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, et al.
HGG Advances
|
January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
Plos One
|
December 24, 2011
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
Sanne P Smeekens, Theo S Plantinga, Frank L van de Veerdonk, et al.
American Journal of Hematology
|
January 2, 2024
A framework for the clinical implementation of optical genome mapping in hematologic malignancies
Brynn Levy, Rashmi Kanagal-Shamanna, Nikhil S Sahajpal, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus
Wolfram Höps, David Porubsky, DongAhn Yoo, et al.
The European Respiratory Journal
|
January 20, 2017
MST1R mutation as a genetic cause of Lady Windermere syndrome
Katharina L Becker, Peer Arts, Martin Jaeger, et al.
HGG Advances
|
May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation
Elke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
Nature Genetics
|
June 21, 2016
Parent-of-origin-specific signatures of de novo mutations
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Nature Genetics
|
October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutations
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Page
of 25