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Human Genetics
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December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
Brain : a Journal of Neurology
|
December 17, 2021
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state
Semra Smajić, Cesar A Prada-Medina, Zied Landoulsi, et al.
Blood Advances
|
August 15, 2023
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Marius-Konstantin Klever, Eric Sträng, Sara Hetzel, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal gene expression
Junyue Cao, Diana R O'Day, Hannah A Pliner, et al.
Cells
|
February 25, 2023
Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response
Rüdiger Braun, Olha Lapshyna, Jessica Watzelt, et al.
Leukemia
|
November 21, 2022
Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML)
Sophie Steinhäuser, Patricia Silva, Lennart Lenk, et al.
Genome Biology
|
October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital disease
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
American Journal of Human Genetics
|
June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Bart van der Sanden, Christian Betz, Katharina Herzog, et al.
Human Molecular Genetics
|
January 15, 2017
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only
Kerstin U Ludwig, Anne C Böhmer, John Bowes, et al.
Nature
|
October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplications
Martin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.
Page
of 14
Search research articles
Search
Showing results (91-100 of 137) with videos related to
Sort By:
Page
of 14
Human Genetics
|
December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
Brain : a Journal of Neurology
|
December 17, 2021
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state
Semra Smajić, Cesar A Prada-Medina, Zied Landoulsi, et al.
Blood Advances
|
August 15, 2023
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Marius-Konstantin Klever, Eric Sträng, Sara Hetzel, et al.
Science (New York, N.Y.)
|
November 13, 2020
A human cell atlas of fetal gene expression
Junyue Cao, Diana R O'Day, Hannah A Pliner, et al.
Cells
|
February 25, 2023
Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response
Rüdiger Braun, Olha Lapshyna, Jessica Watzelt, et al.
Leukemia
|
November 21, 2022
Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML)
Sophie Steinhäuser, Patricia Silva, Lennart Lenk, et al.
Genome Biology
|
October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital disease
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
American Journal of Human Genetics
|
June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Bart van der Sanden, Christian Betz, Katharina Herzog, et al.
Human Molecular Genetics
|
January 15, 2017
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only
Kerstin U Ludwig, Anne C Böhmer, John Bowes, et al.
Nature
|
October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplications
Martin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.
Page
of 14