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Medrxiv : the Preprint Server for Health Sciences
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August 8, 2025
Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism
Milad Mortazavi, James Guevara, Joshua Diaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2024
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic
Aaron D Besterman, David J Adams, Nicole R Wong, et al.
Pediatric Neurology
|
October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder
Kristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 12, 2024
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic
Nicole R Wong, Alexandra Klomhaus, David J Adams, et al.
Cell Genomics
|
March 10, 2026
Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism
Milad Mortazavi, James Guevara, Joshua Diaz, et al.
Plos Genetics
|
July 1, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
Aaron D Besterman, Thorsten Althoff, Peter Elfferich, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 2, 2025
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway
Aaron D Besterman, Gerhard Hellemann, Irma Gutierrez-Mejia, et al.
Biological Psychiatry
|
October 2, 2025
Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis
Harman Singh Brah, Nimrat Sran, Sanjana Sanghani, et al.
The Journal of Clinical Psychiatry
|
December 15, 2018
What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics
John I Nurnberger, Jehannine Austin, Wade H Berrettini, et al.
Scientific Reports
|
December 28, 2024
Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder
Jonathan D Santoro, Saba Jafarpour, Laura Keehan, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
Medrxiv : the Preprint Server for Health Sciences
|
August 8, 2025
Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism
Milad Mortazavi, James Guevara, Joshua Diaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2024
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic
Aaron D Besterman, David J Adams, Nicole R Wong, et al.
Pediatric Neurology
|
October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder
Kristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 12, 2024
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic
Nicole R Wong, Alexandra Klomhaus, David J Adams, et al.
Cell Genomics
|
March 10, 2026
Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism
Milad Mortazavi, James Guevara, Joshua Diaz, et al.
Plos Genetics
|
July 1, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
Aaron D Besterman, Thorsten Althoff, Peter Elfferich, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 2, 2025
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway
Aaron D Besterman, Gerhard Hellemann, Irma Gutierrez-Mejia, et al.
Biological Psychiatry
|
October 2, 2025
Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis
Harman Singh Brah, Nimrat Sran, Sanjana Sanghani, et al.
The Journal of Clinical Psychiatry
|
December 15, 2018
What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics
John I Nurnberger, Jehannine Austin, Wade H Berrettini, et al.
Scientific Reports
|
December 28, 2024
Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder
Jonathan D Santoro, Saba Jafarpour, Laura Keehan, et al.
Page
of 3