Search research articles
Contact Us
Filters
Showing results (41-50 of 68) with videos related to
Page
of 7
Sort By:
JID Innovations : Skin Science From Molecules to Population Health
|
June 11, 2024
Uncommon Variants in <i>FLG2</i> and <i>NOD2</i> Are Associated with Atopic Dermatitis in the Ethiopian Population
Sailan Wang, Julia K Elmgren, Jesper Eisfeldt, et al.
Bioinformatics (Oxford, England)
|
February 19, 2026
Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
Felix Lenner, Anders Jemt, Lucia Peña Pérez, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
F1000Research
|
September 15, 2020
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
Maxime Garcia, Szilveszter Juhos, Malin Larsson, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
January 14, 2017
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, et al.
Blood Advances
|
June 8, 2022
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Lucía Peña-Pérez, Nicolai Frengen, Julia Hauenstein, et al.
Nature Communications
|
August 24, 2023
Long-read whole-genome analysis of human single cells
Joanna Hård, Jeff E Mold, Jesper Eisfeldt, et al.
EMBO Molecular Medicine
|
February 21, 2024
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Sailan Wang, Pernilla Nikamo, Leena Laasonen, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Genome Medicine
|
January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
Marlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 68) with videos related to
Sort By:
Page
of 7
JID Innovations : Skin Science From Molecules to Population Health
|
June 11, 2024
Uncommon Variants in <i>FLG2</i> and <i>NOD2</i> Are Associated with Atopic Dermatitis in the Ethiopian Population
Sailan Wang, Julia K Elmgren, Jesper Eisfeldt, et al.
Bioinformatics (Oxford, England)
|
February 19, 2026
Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
Felix Lenner, Anders Jemt, Lucia Peña Pérez, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
F1000Research
|
September 15, 2020
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
Maxime Garcia, Szilveszter Juhos, Malin Larsson, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
January 14, 2017
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, et al.
Blood Advances
|
June 8, 2022
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Lucía Peña-Pérez, Nicolai Frengen, Julia Hauenstein, et al.
Nature Communications
|
August 24, 2023
Long-read whole-genome analysis of human single cells
Joanna Hård, Jeff E Mold, Jesper Eisfeldt, et al.
EMBO Molecular Medicine
|
February 21, 2024
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Sailan Wang, Pernilla Nikamo, Leena Laasonen, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Genome Medicine
|
January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
Marlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Page
of 7