DOCSLIB.ORG
Explore
Sign Up
Log In
Upload
Search
Home
» Tags
» MMACHC
MMACHC
Supplement 1 Overview of Dystonia Genes
Abstracts from the 9Th Biennial Scientific Meeting of The
Download
Seven Novel Genetic Variants in a North Indian Cohort with Classical Homocystinuria Rajdeep Kaur1, Savita V
Treatable Inborn Errors of Metabolism Presenting As Cerebral Palsy Mimics
Selection Signatures Scan in Several Italian Sheep Breeds Identifies Genes Influencing Micronutrient Metabolism S
CENTOGENE's Severe and Early Onset Disorder Gene List
The Genotype Analysis and Prenatal Genetic Diagnosis Among 244 Pedigrees with Methylmalonic Aciduria in China
Diseases Catalogue
Newborn Screening for Methylmalonic Acidaemia External Review Against Programme Appraisal Criteria for the UK National Screening Committee (UK NSC)
270 Genes Genetic Insights Panel
Original Article Genetic Analysis of Four Cases of Methylmalonic Aciduria and Homocystinuria, Cblc Type
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Beacon Carrier Screening Detecting 400+ Conditions
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder Technical Brief Number 23
Mutation Analysis, Treatment and Prenatal Diagnosis of Chinese
Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets
University of Groningen Movement Disorders in Inborn Errors Of
Top View
Network-Guided Propagation of Metabolomic Information for Prioritization of Metabolic Disease Genes
Abstract #1510, SIMD 2016
Intracellular Vitamin B12 Metabolism with a Focus on MMADHC, a Gene
Genomic Unity® Prenatal Analysis
Cardiac Manifestations of Inherited Metabolic Disease Linked to Cellular
Spectrum Analysis of Inborn Errors of Metabolism for Expanded Newborn
Construction of a Knockout Mouse Model For
Mild Clinical Features of Isolated Methylmalonic Acidemia Associated
Molecular Genetic Characterization of Cblc Defects in 126 Pedigrees And
Systemic Vitamin Intake Impacting Tissue Proteomes Heesoo Jeong and Nathaniel M
Name Gene Symbol OCD Anxiety Behavioral Disorder Depression
A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish
Ontario Newborn Screening Laboratory
Blueprint Genetics Comprehensive Metabolism Panel
Testing of Homocysteine Metabolism Related Conditions AHS – M2141
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases a Review
Mackenzie's Mission Gene & Condition List
I VASCULAR BIOCHEMISTRY of VITAMIN
MMADHC Gene Metabolism of Cobalamin Associated D
Treatable Genetic Diseases Are Enriched in the General Psychiatric Population
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Generated by SRI International Pathway Tools Version 25.0 on Mon
11 International Conference on Homocysteine & One
Allelic Expression of MMACHC and Evidence for Genotype-Phenotype Correlations in Cblc Disease
POSITIVE RESULT Likely Pathogenic Variant Identified
GVF-UPDATE|Annual 2009
Genetix Panels Gene List FINAL
MMACHC Gene Metabolism of Cobalamin Associated C
Characterization of Functional Domains of the Cbld (MMADHC) Gene Product
ᵪ ᵪ Patient / Legal Guardian (Date, Signature) Doctor (Date, Signature)
Guidelines for Diagnosis and Management... Cblf, Cblg, Cblj and MTHFR Deficiency
Different Altered Pattern Expression of Genes Related to Apoptosis In
Genes and Conditions Tested
Variable Phenotypes and Outcomes
Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
Newborn Genetic Analysis
Hydrocephalus in Cblc Type Methylmalonic Acidemia
Generated by SRI International Pathway Tools Version 24.0 on Thu
Cobalamin C Disease
Genomic Unity® Neurology Analysis