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Christianson syndrome
Reframing Psychiatry for Precision Medicine
Sensory Deficits in a Mouse Model of Christianson Syndrome Tarheen
What Is Christianson Syndrome? by Dr
Luca Bartolini, MD 1 8/9/2021 CURRICULUM VITAE LUCA
Amyloid Clearance Defect in Apoe4 Astrocytes Is Reversed by Epigenetic Correction of Endosomal Ph
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
EURORDIS Member Associations - February 2018
Mutations Responsible for Lipodystrophy with Severe Hypertension Activate the Cellular Renin-Angiotensin System
View the 2014 C.A.R.E.S. Booklet
Christianson Syndrome Protein NHE6 Modulates Trkb Endosomal Signaling Required for Neuronal Circuit Development
Genetic Testing Medical Policy – Genetics
Summer Research Symposium 2019
Treatment of Epileptic Encephalopathies
FINAL Rare Epilepsy Landscape Analysis
Rare Epilepsy Landscape Analysis (RELA)
Curriculum Vitae
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
Characterization of Influx Transporters in the Blood-Brain Barrier: Implications for Drug Delivery
The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation
Poster Session II-Tuesdaytuesday, December 10, 2013
Stem Cell Reports Meeting Report
Ventriculomegaly Precision Panel Overview Indications Clinical Utility
NIH Public Access Author Manuscript Am J Med Genet A
The Development of a Provincial Pediatric Epilepsy Program
Empowering Collaboration / Advancing Knowledge
Comprehensive Evaluation of the Child with Intellectual Disability Or Global Developmental Delays
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Pathophysiology of Hepatic Na+/H+ Exchange (Review)
Prevalence and Incidence of Rare Diseases
Poster Session
Pathology and Laboratory Cpt Code Changes Effective January 1, 2017
Clinical and Genetic Aspects of Angelman Syndrome Charles A
Emerging Links Between Endosomal Ph and Cancer