HD Phenocopies—Possible Role of Saitohin Gene (original) (raw)
2008, International Journal of Neuroscience
visibility
…
description
9 pages
link
1 file
Related papers
Novel human pathological mutations
Human Genetics, 2005
Identification of the genetic causes of orphan diseases
2013
Genome studies and molecular genetics
Current Opinion in Plant Biology, 2003
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
New England Journal of Medicine, 2012
Non-USH2A mutations in USH2 patients
Human Mutation, 2012
Transcriptomic Approach to Lesch-Nyhan Disease
Nucleosides, Nucleotides and Nucleic Acids, 2014
Hum Genet (2000) 107:630–641 DOI 10.1007/s004390000426 ORIGINAL INVESTIGATION
2014
Basic concepts of medical genetics, pathogenetics, part 3
Egyptian Journal of Medical Human Genetics, 2013
Molecular genetics of Usher syndrome
Cellular and Molecular Life Sciences (CMLS), 1999
Loading Preview
Sorry, preview is currently unavailable. You can download the paper by clicking the button above.
Related papers
Molecular genetics of Dravet syndrome
Developmental Medicine & Child Neurology, 2011
Abnormal Elongations of HOX Gene Clusters May Cause Cancer
Frontiers in Cell and Developmental Biology, 2018
2. Post-Natal Molecular Diagnosis of Inherited Diseases
EJIFCC, 2008
Identification of novel candidate disease genes from de novo exonic copy number variants
Genome Medicine, 2017
Improvement in the Molecular Diagnosis of Machado-Joseph Disease
Archives of Neurology, 2001
Structuring the Review of Human Genetics Protocols Part II: Diagnostic and Screening Studies
IRB: Ethics & Human Research, 1997
The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3
Journal of Dermatological Science, 2010
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
Human Mutation, 2008
Automated DNA sequencing of the human HPRT locus
Genomics, 1990
Attenuated variants of Lesch-Nyhan disease
Brain, 2010
Genetic testing for Usher syndrome
The eurobiotech journal, 2017
Genetic approaches to studying complex human disease
2013
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
Nature Genetics, 1993
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)
BMC Genomics, 2016
An SRY-negative XX male with Huriez syndrome
Clinical Genetics, 2001
Human Genetics, 1997
Oguchi type I caused by a homozygous missense variation in the SAG gene
European Journal of Medical Genetics, 2018
Clinical utility gene card for: Lesch–Nyhan syndrome
European Journal of Human Genetics, 2010
Introduction to Genetic Screening
OBM Genetics, 2019
Genetic testing for Bietti crystalline dystrophy
The eurobiotech journal, 2017
Landoure et al CMT2C Nature Genetics 2010
Basic concepts of medical genetics, pathogenetics: Part 1
Egyptian Journal of Medical Human Genetics, 2012
The Holistic Approach on Genetics
2024
Mutations of theAAASgene in an Indian family with Allgrove's syndrome
World Journal of Gastroenterology, 2006
Hepatology Focus - Hereditary hemochromatosis
2003
Related topics
NeuroscienceCognitive ScienceBiologyMedicineGene expressionPolymerase Chain ReactionPhenotypeGenotypeSingle Nucleotide PolymorphismHuntington diseaseNeurosciencesCase Control StudiesallelesTau proteins