(Q80739048)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17676595%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals (English)

1 reference

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3 January 2020

5

1 reference

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3 January 2020

3

Christopher E Mason

1 reference

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3 January 2020

author name string

Fatih Bayrakli

1

1 reference

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3 January 2020

Kaya Bilguvar

2

1 reference

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3 January 2020

Michael L DiLuna

4

1 reference

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3 January 2020

Levent Gungor

6

1 reference

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3 January 2020

Murat Terzi

7

1 reference

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3 January 2020

Shrikant M Mane

8

1 reference

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3 January 2020

Richard P Lifton

9

1 reference

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3 January 2020

Matthew W State

10

1 reference

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3 January 2020

Murat Gunel

11

1 reference

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3 January 2020

publication date

1 December 2007

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3 January 2020

1 reference

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3 January 2020

volume

28

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3 January 2020

issue

12

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3 January 2020

page(s)

1236-1240

1 reference

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

3 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Breast tumor copy number aberration phenotypes and genomic instability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Pathogenetic mechanisms of parkin in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Identification of deletion mutations and three new genes at the familial polyposis locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Circular binary segmentation for the analysis of array-based DNA copy number data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

High-resolution analysis of chromosomal breakpoints and genomic instability identifies PTPRD as a candidate tumor suppressor gene in neuroblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Genetic clues to the pathogenesis of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

A new non-linear normalization method for reducing variability in DNA microarray experiments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20592

7 January 2021

Identifiers

DOI

10.1002/HUMU.20592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17676595%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference