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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
NPJ Genomic Medicine
|
February 17, 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, et al.
Nature Communications
|
October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
American Journal of Human Genetics
|
January 3, 2012
Rare deletions at the neurexin 3 locus in autism spectrum disorder
Andrea K Vaags, Anath C Lionel, Daisuke Sato, et al.
Plos Genetics
|
September 13, 2012
Rare copy number variants contribute to congenital left-sided heart disease
Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, et al.
Human Mutation
|
January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Nature
|
October 9, 2009
Origins and functional impact of copy number variation in the human genome
Donald F Conrad, Dalila Pinto, Richard Redon, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Molecular Psychiatry
|
February 23, 2018
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
Melanie Richter, Nadeem Murtaza, Robin Scharrenberg, et al.
Biorxiv : the Preprint Server for Biology
|
November 26, 2025
Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex
Kuldeep Kumar, Sayeh Kazem, Guillaume Huguet, et al.
Page
of 92
Search research articles
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Showing results (791-800 of 915) with videos related to
Sort By:
Page
of 92
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
NPJ Genomic Medicine
|
February 17, 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, et al.
Nature Communications
|
October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
American Journal of Human Genetics
|
January 3, 2012
Rare deletions at the neurexin 3 locus in autism spectrum disorder
Andrea K Vaags, Anath C Lionel, Daisuke Sato, et al.
Plos Genetics
|
September 13, 2012
Rare copy number variants contribute to congenital left-sided heart disease
Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, et al.
Human Mutation
|
January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Nature
|
October 9, 2009
Origins and functional impact of copy number variation in the human genome
Donald F Conrad, Dalila Pinto, Richard Redon, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Molecular Psychiatry
|
February 23, 2018
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
Melanie Richter, Nadeem Murtaza, Robin Scharrenberg, et al.
Biorxiv : the Preprint Server for Biology
|
November 26, 2025
Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex
Kuldeep Kumar, Sayeh Kazem, Guillaume Huguet, et al.
Page
of 92