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Human Mutation
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February 1, 2011
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
Ludwine Messiaen, Julia Vogt, Kathrin Bengesser, et al.
Plos One
|
December 20, 2018
The sequencing and interpretation of the genome obtained from a Serbian individual
Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, et al.
American Journal of Human Genetics
|
February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Mathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 4, 2003
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region
David N Cooper, Martin Horan, David S Millar, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
May 29, 2007
Detection of two Alu insertions in the CFTR gene
Jian-Min Chen, Emmanuelle Masson, Milan Macek, et al.
Science Advances
|
June 1, 2023
Lineage-specific accelerated sequences underlying primate evolution
Xupeng Bi, Long Zhou, Jin-Jin Zhang, et al.
Human Mutation
|
March 26, 2003
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
Martin Horan, David S Millar, Jürgen Hedderich, et al.
Anesthesiology
|
November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutations
Stephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
Human Mutation
|
December 8, 2004
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
Hildegard Kehrer-Sawatzki, Catharina Sandig, Nadia Chuzhanova, et al.
NPJ Parkinson'S Disease
|
June 13, 2025
Repurposing the memory-promoting meclofenoxate hydrochloride as a treatment for Parkinson's disease through integrative multi-omics analysis
Huasong Zhang, Cong Fan, Ling Li, et al.
Page
of 40
Search research articles
Search
Showing results (231-240 of 398) with videos related to
Sort By:
Page
of 40
Human Mutation
|
February 1, 2011
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
Ludwine Messiaen, Julia Vogt, Kathrin Bengesser, et al.
Plos One
|
December 20, 2018
The sequencing and interpretation of the genome obtained from a Serbian individual
Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, et al.
American Journal of Human Genetics
|
February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Mathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 4, 2003
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region
David N Cooper, Martin Horan, David S Millar, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
May 29, 2007
Detection of two Alu insertions in the CFTR gene
Jian-Min Chen, Emmanuelle Masson, Milan Macek, et al.
Science Advances
|
June 1, 2023
Lineage-specific accelerated sequences underlying primate evolution
Xupeng Bi, Long Zhou, Jin-Jin Zhang, et al.
Human Mutation
|
March 26, 2003
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
Martin Horan, David S Millar, Jürgen Hedderich, et al.
Anesthesiology
|
November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutations
Stephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
Human Mutation
|
December 8, 2004
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
Hildegard Kehrer-Sawatzki, Catharina Sandig, Nadia Chuzhanova, et al.
NPJ Parkinson'S Disease
|
June 13, 2025
Repurposing the memory-promoting meclofenoxate hydrochloride as a treatment for Parkinson's disease through integrative multi-omics analysis
Huasong Zhang, Cong Fan, Ling Li, et al.
Page
of 40