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Human Genetics
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June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Joke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
American Journal of Human Genetics
|
September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Lingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
Suzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genome Research
|
April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Marijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Journal of Medical Genetics
|
August 21, 2013
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Maria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Ye Wu, Amy C Arai, Gavin Rumbaugh, et al.
Molecular Oncology
|
January 31, 2025
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics
Guy Froyen, Pieter-Jan Volders, Ellen Geerdens, et al.
Frontiers in Digital Health
|
April 23, 2026
Advancing the adoption of oncology decision support tools in Europe: insights from CAN.HEAL
Nancy Frederickx, Guy Froyen, Maud Kamal, et al.
Nature Communications
|
March 26, 2021
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities
Bénedith Oben, Guy Froyen, Kylee H Maclachlan, et al.
American Journal of Human Genetics
|
July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements
Guy Froyen, Stefanie Belet, Francisco Martinez, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 77) with videos related to
Sort By:
Page
of 8
Human Genetics
|
June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Joke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
American Journal of Human Genetics
|
September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Lingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
Suzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genome Research
|
April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Marijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Journal of Medical Genetics
|
August 21, 2013
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Maria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Ye Wu, Amy C Arai, Gavin Rumbaugh, et al.
Molecular Oncology
|
January 31, 2025
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics
Guy Froyen, Pieter-Jan Volders, Ellen Geerdens, et al.
Frontiers in Digital Health
|
April 23, 2026
Advancing the adoption of oncology decision support tools in Europe: insights from CAN.HEAL
Nancy Frederickx, Guy Froyen, Maud Kamal, et al.
Nature Communications
|
March 26, 2021
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities
Bénedith Oben, Guy Froyen, Kylee H Maclachlan, et al.
American Journal of Human Genetics
|
July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements
Guy Froyen, Stefanie Belet, Francisco Martinez, et al.
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of 8