HD Phenocopies—Possible Role of Saitohin Gene (original) (raw)

Profile image of Dusan KeckarevicDusan Keckarevic

2008, International Journal of Neuroscience

visibility

description

9 pages

link

1 file

Novel human pathological mutations

RASHID HUSSAIN

Human Genetics, 2005

View PDFchevron_right

Identification of the genetic causes of orphan diseases

Kristyn Esteves

2013

View PDFchevron_right

Genome studies and molecular genetics

Ronald Sederoff

Current Opinion in Plant Biology, 2003

View PDFchevron_right

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Salmo Raskin

New England Journal of Medicine, 2012

View PDFchevron_right

Non-USH2A mutations in USH2 patients

Sylvie Odent

Human Mutation, 2012

View PDFchevron_right

Transcriptomic Approach to Lesch-Nyhan Disease

Lionel Mockel

Nucleosides, Nucleotides and Nucleic Acids, 2014

View PDFchevron_right

Hum Genet (2000) 107:630–641 DOI 10.1007/s004390000426 ORIGINAL INVESTIGATION

Marina Faerman

2014

View PDFchevron_right

Introduction to Genetics

Isabela Souto

View PDFchevron_right

Basic concepts of medical genetics, pathogenetics, part 3

Mohammad Salem

Egyptian Journal of Medical Human Genetics, 2013

View PDFchevron_right

Molecular genetics of Usher syndrome

Erwin Van Wijk

Cellular and Molecular Life Sciences (CMLS), 1999

View PDFchevron_right

Loading...

Loading Preview

Sorry, preview is currently unavailable. You can download the paper by clicking the button above.

Molecular genetics of Dravet syndrome

Sarah Weckhuysen

Developmental Medicine & Child Neurology, 2011

View PDFchevron_right

Abnormal Elongations of HOX Gene Clusters May Cause Cancer

Spyros Papageorgiou

Frontiers in Cell and Developmental Biology, 2018

View PDFchevron_right

2. Post-Natal Molecular Diagnosis of Inherited Diseases

stefania stenirri

EJIFCC, 2008

View PDFchevron_right

Identification of novel candidate disease genes from de novo exonic copy number variants

Edward Buchanan

Genome Medicine, 2017

View PDFchevron_right

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Jose Barros

Archives of Neurology, 2001

View PDFchevron_right

Structuring the Review of Human Genetics Protocols Part II: Diagnostic and Screening Studies

Trudo Lemmens

IRB: Ethics & Human Research, 1997

View PDFchevron_right

The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3

Enriqueta Tristan-clavijo

Journal of Dermatological Science, 2010

View PDFchevron_right

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

James Hartsfield

Human Mutation, 2008

View PDFchevron_right

Automated DNA sequencing of the human HPRT locus

Andrew Civitello

Genomics, 1990

View PDFchevron_right

Attenuated variants of Lesch-Nyhan disease

Juan Garcia Puig

Brain, 2010

View PDFchevron_right

Genetic testing for Usher syndrome

andi abeshi

The eurobiotech journal, 2017

View PDFchevron_right

Genetic approaches to studying complex human disease

joseph dube

2013

View PDFchevron_right

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

Sylvie Odent

Nature Genetics, 1993

View PDFchevron_right

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

sahar hakamy

BMC Genomics, 2016

View PDFchevron_right

An SRY-negative XX male with Huriez syndrome

alessandro terrinoni

Clinical Genetics, 2001

View PDFchevron_right

Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population

Akira Shimamoto

Human Genetics, 1997

View PDFchevron_right

Oguchi type I caused by a homozygous missense variation in the SAG gene

andi abeshi

European Journal of Medical Genetics, 2018

View PDFchevron_right

Clinical utility gene card for: Lesch–Nyhan syndrome

Juan Garcia Puig

European Journal of Human Genetics, 2010

View PDFchevron_right

Introduction to Genetic Screening

François Rousseau

OBM Genetics, 2019

View PDFchevron_right

Genetic testing for Bietti crystalline dystrophy

andi abeshi

The eurobiotech journal, 2017

View PDFchevron_right

Landoure et al CMT2C Nature Genetics 2010

Christy Ludlow

View PDFchevron_right

Basic concepts of medical genetics, pathogenetics: Part 1

Mohammad Salem

Egyptian Journal of Medical Human Genetics, 2012

View PDFchevron_right

The Holistic Approach on Genetics

Aljanat Sanni

2024

View PDFchevron_right

Mutations of theAAASgene in an Indian family with Allgrove's syndrome

Sumita Danda

World Journal of Gastroenterology, 2006

View PDFchevron_right

Hepatology Focus - Hereditary hemochromatosis

Walid Ayoub

2003

View PDFchevron_right

NeuroscienceCognitive ScienceBiologyMedicineGene expressionPolymerase Chain ReactionPhenotypeGenotypeSingle Nucleotide PolymorphismHuntington diseaseNeurosciencesCase Control StudiesallelesTau proteins