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Christianson syndrome

  • Reframing Psychiatry for Precision Medicine

    Reframing Psychiatry for Precision Medicine

  • Sensory Deficits in a Mouse Model of Christianson Syndrome Tarheen

    Sensory Deficits in a Mouse Model of Christianson Syndrome Tarheen

  • What Is Christianson Syndrome? by Dr

    What Is Christianson Syndrome? by Dr

  • Luca Bartolini, MD 1 8/9/2021 CURRICULUM VITAE LUCA

    Luca Bartolini, MD 1 8/9/2021 CURRICULUM VITAE LUCA

  • Amyloid Clearance Defect in Apoe4 Astrocytes Is Reversed by Epigenetic Correction of Endosomal Ph

    Amyloid Clearance Defect in Apoe4 Astrocytes Is Reversed by Epigenetic Correction of Endosomal Ph

  • Research Resources: Brown University

    Research Resources: Brown University

  • A Potential Gain-Of-Function Variant of SLC9A6 Leads to Endosomal T Alkalinization and Neuronal Atrophy Associated with Christianson Syndrome Alina Iliea, Andy Y.L

    A Potential Gain-Of-Function Variant of SLC9A6 Leads to Endosomal T Alkalinization and Neuronal Atrophy Associated with Christianson Syndrome Alina Iliea, Andy Y.L

  • EURORDIS Member Associations - February 2018

    EURORDIS Member Associations - February 2018

  • Mutations Responsible for Lipodystrophy with Severe Hypertension Activate the Cellular Renin-Angiotensin System

    Mutations Responsible for Lipodystrophy with Severe Hypertension Activate the Cellular Renin-Angiotensin System

  • View the 2014 C.A.R.E.S. Booklet

    View the 2014 C.A.R.E.S. Booklet

  • Christianson Syndrome Protein NHE6 Modulates Trkb Endosomal Signaling Required for Neuronal Circuit Development

    Christianson Syndrome Protein NHE6 Modulates Trkb Endosomal Signaling Required for Neuronal Circuit Development

  • Genetic Testing Medical Policy – Genetics

    Genetic Testing Medical Policy – Genetics

  • Summer Research Symposium 2019

    Summer Research Symposium 2019

  • Treatment of Epileptic Encephalopathies

    Treatment of Epileptic Encephalopathies

  • FINAL Rare Epilepsy Landscape Analysis

    FINAL Rare Epilepsy Landscape Analysis

  • Rare Epilepsy Landscape Analysis (RELA)

    Rare Epilepsy Landscape Analysis (RELA)

  • Curriculum Vitae

    Curriculum Vitae

  • Angelman Syndrome: an Autism Spectrum Disorder

    Angelman Syndrome: an Autism Spectrum Disorder

Top View
  • Genetic Testing Outcomes in a Utilization Management Genetic Counseling Clinic Compared to Genetic Testing Ordered by Non-Genetics Providers
  • Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
  • How Endosomal Na+/H+ Exchangers Link to Autism and Neurological Disease
  • Epilepsy in the X-Linked Syndromic Intellectual Disability, Christianson Type Resulted from C.584+1 G>T SLC9A6 Variant
  • Investigation of the Molecular Basis of Three New Disorders of Brain Growth and Development Identified Amongst the Amish
  • Deficiency Leads to Hearing Loss, Via Reduced Endosomal
  • P-00814 (12/2020) 4
  • Comprehensive Evaluation of the Child with Intellectual Disability Or Global Developmental Delays
  • Abstracts in the Programme and Abstract Book
  • Review of X-Linked Syndromes with Arthrogryposis Or Early Contractures—Aid to Diagnosis and Pathway Identification Jesse M
  • Improving Diagnosis, Understanding, and Treatment of Farber Disease
  • Name Position Poster Title
  • In SLC9A6 Impairs Hippocampal Neuronal Plasticity T ⁎ Andy Y.L
  • Angelman-Like Syndrome: a Genetic Approach to Diagnosis with Illustrative Cases
  • Newborndxtm Advanced Sequencing Evaluation Disorders List
  • Fetal Examination/Genetic Evaluation Information and Instructions
  • Rare Disease Registries in Europe
  • 1 Dec. 6, 2017 Procedure Code List for Preauthorization for Blue Cross


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