(Q29619085)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

1 reference

1

Botstein D

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

author name string

Risch N

series ordinal

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

language of work or name

1 reference

30 April 2017

publication date

March 2003

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

volume

33 Suppl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

30 April 2017

page(s)

228-37

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

30 April 2017

cites work

1 reference

7 January 2021

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1 reference

7 January 2021

Identification of a variant associated with adult-type hypolactasia

1 reference

7 January 2021

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

7 January 2021

Cloning of cDNAs for Fanconi's anaemia by functional complementation

1 reference

7 January 2021

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

7 January 2021

Structural evidence for the authenticity of the human retinoblastoma gene

1 reference

7 January 2021

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

7 January 2021

Identification of the breast cancer susceptibility gene BRCA2

1 reference

7 January 2021

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

1 reference

7 January 2021

A polymorphic DNA marker genetically linked to Huntington's disease

1 reference

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

7 January 2021

The Sequence of the Human Genome

1 reference

7 January 2021

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

1 reference

7 January 2021

Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms

1 reference

7 January 2021

Linkage of early-onset familial breast cancer to chromosome 17q21

1 reference

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

7 January 2021

Localisation of a Fanconi anaemia gene to chromosome 9p.

1 reference

7 January 2021

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

1 reference

7 January 2021

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

7 January 2021

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

1 reference

7 January 2021

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

1 reference

7 January 2021

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

1 reference

7 January 2021

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

1 reference

7 January 2021

Molecular mechanisms of human hypertension

1 reference

7 January 2021

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

7 January 2021

The Huntington's disease candidate region exhibits many different haplotypes

1 reference

7 January 2021

Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany

1 reference

7 January 2021

Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations

1 reference

7 January 2021

Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping

1 reference

7 January 2021

Fine scale association mapping of disease loci using simplex families

1 reference

7 January 2021

Haplotype fine mapping by evolutionary trees

1 reference

7 January 2021

Bayesian analysis of haplotypes for linkage disequilibrium mapping

1 reference

7 January 2021

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

1 reference

7 January 2021

Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes

1 reference

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

7 January 2021

Haplotype variation and linkage disequilibrium in 313 human genes

1 reference

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

7 January 2021

Two types of amino acid substitutions in protein evolution

1 reference

7 January 2021

Haemochromatosis, HFE and genetic complexity

1 reference

7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

7 January 2021

Probing beta-lactamase structure and function using random replacement mutagenesis

1 reference

7 January 2021

The future of genetic studies of complex human diseases

1 reference

7 January 2021

The new genomics: global views of biology

1 reference

7 January 2021

Searching for genetic determinants in the new millennium

1 reference

7 January 2021

Genomics and medicine. Dissecting human disease in the postgenomic era.

1 reference

7 January 2021

Single-nucleotide polymorphisms in the public domain: how useful are they?

1 reference

7 January 2021

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

1 reference

7 January 2021

Variations on a theme: cataloging human DNA sequence variation

1 reference

7 January 2021

The structure of haplotype blocks in the human genome

1 reference

7 January 2021

High-resolution haplotype structure in the human genome

1 reference

7 January 2021

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex

1 reference

7 January 2021

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

7 January 2021

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

1 reference

7 January 2021

How many diseases does it take to map a gene with SNPs?

1 reference

7 January 2021

Complex genetic diseases: controversy over the Croesus code

1 reference

7 January 2021

Genomewide scans of complex human diseases: true linkage is hard to find

1 reference

7 January 2021

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes

1 reference

7 January 2021

Short tandem repeat polymorphism evolution in humans

1 reference

7 January 2021

A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity

1 reference

7 January 2021

The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling

1 reference

7 January 2021

A comprehensive review of genetic association studies

1 reference

7 January 2021

Sequence first. Ask questions later

1 reference

7 January 2021

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

1 reference

7 January 2021

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

Identifiers

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1013543818

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12610532

PubMed publication ID

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017