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Medrxiv : the Preprint Server for Health Sciences
|
January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple Families
Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, et al.
Cell Reports
|
March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease
Thomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Brain : a Journal of Neurology
|
April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Daniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
American Journal of Human Genetics
|
January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
Jesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Science Advances
|
October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
Kamal Khan, Erika Tavares, Katherine Bishara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
European Journal of Human Genetics : EJHG
|
May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2026
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients
Katerina Bernardi, Anna Zhou, Kathryn Yang, et al.
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Search research articles
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Showing results (31-40 of 71) with videos related to
Sort By:
Page
of 8
Medrxiv : the Preprint Server for Health Sciences
|
January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple Families
Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, et al.
Cell Reports
|
March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease
Thomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Brain : a Journal of Neurology
|
April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Daniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
American Journal of Human Genetics
|
January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
Jesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Science Advances
|
October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
Kamal Khan, Erika Tavares, Katherine Bishara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
European Journal of Human Genetics : EJHG
|
May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 18, 2026
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients
Katerina Bernardi, Anna Zhou, Kathryn Yang, et al.
Page
of 8