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Neurology
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April 25, 2020
Neurologic manifestations in an infant with COVID-19
Rachelle Dugue, Karla C Cay-Martínez, Kiran T Thakur, et al.
Nature Medicine
|
August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
Alban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
JAMA Pediatrics
|
December 2, 2024
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis
Sara A Lewis, Maya Chopra, Julie S Cohen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Khemika K Sudnawa, Wenxing Li, Sean Calamia, et al.
Open Forum Infectious Diseases
|
November 24, 2020
Cerebrospinal Analysis in Patients With COVID-19
Emily Happy Miller, Vivian S Namale, Carla Kim, et al.
American Journal of Human Genetics
|
August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Jennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Human Genetics
|
December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Hans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Nucleic Acids Research
|
June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience
Stanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Neurology. Genetics
|
March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental Disorder
Jennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
JAMA Network Open
|
September 23, 2024
Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic
Morgan R Firestein, Angela Manessis, Jennifer M Warmingham, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 46) with videos related to
Sort By:
Page
of 5
Neurology
|
April 25, 2020
Neurologic manifestations in an infant with COVID-19
Rachelle Dugue, Karla C Cay-Martínez, Kiran T Thakur, et al.
Nature Medicine
|
August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
Alban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
JAMA Pediatrics
|
December 2, 2024
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis
Sara A Lewis, Maya Chopra, Julie S Cohen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Khemika K Sudnawa, Wenxing Li, Sean Calamia, et al.
Open Forum Infectious Diseases
|
November 24, 2020
Cerebrospinal Analysis in Patients With COVID-19
Emily Happy Miller, Vivian S Namale, Carla Kim, et al.
American Journal of Human Genetics
|
August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Jennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Human Genetics
|
December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Hans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Nucleic Acids Research
|
June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience
Stanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Neurology. Genetics
|
March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental Disorder
Jennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
JAMA Network Open
|
September 23, 2024
Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic
Morgan R Firestein, Angela Manessis, Jennifer M Warmingham, et al.
Page
of 5