(Q42789895)

7 November 2017

Challenges of diagnostic exome sequencing in an inbred founder population (English)

1 reference

7 November 2017

Dimitar N Azmanov

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Teodora Chamova

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rick Tankard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Vladimir Gelev

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Michael Bynevelt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Laura Florez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Dochka Tzoneva

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Velina Guergueltcheva

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Melanie Bahlo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ivailo Tournev

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

English

0 references

publication date

22 April 2013

1 reference

Molecular genetics & genomic medicine

7 November 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

71-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

4 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Developmental disorders of the midbrain and hindbrain

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

A method and server for predicting damaging missense mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Differential functions of ApoER2 and very low density lipoprotein receptor in Reelin signaling depend on differential sorting of the receptors

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

The Sequence Alignment/Map format and SAMtools

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Fast and accurate short read alignment with Burrows-Wheeler transform

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

A newly discovered founder population: the Roma/Gypsies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

The LDL receptor: how acid pulls the trigger

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Estimation of the inbreeding coefficient through use of genomic data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Structure of the LDL receptor extracellular domain at endosomal pH

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Predicting deleterious amino acid substitutions

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Reelin is a ligand for lipoprotein receptors

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Multiple sequence alignment with hierarchical clustering

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865571

16 August 2018

Identifiers

DOI

10.1002/MGG3.7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

release_fbrak3nhwfa7hplevhrs35pt74

4 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fbrak3nhwfa7hplevhrs35pt74

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

24498604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24498604%20AND%20SRC:MED&resulttype=core&format=json