(Q37375258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

1 reference

4

1 reference

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29 December 2019

Kwanghyuk Lee

5

1 reference

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29 December 2019

7

Suzanne M Leal

1 reference

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29 December 2019

author name string

Muhammad S Chishti

1

1 reference

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29 December 2019

Attya Bhatti

2

1 reference

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29 December 2019

Sana Tamim

3

1 reference

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29 December 2019

Merry-Lynn McDonald

6

1 reference

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29 December 2019

Wasim Ahmad

8

1 reference

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29 December 2019

publication date

15 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

29 December 2019

published in

1 reference

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29 December 2019

volume

53

1 reference

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29 December 2019

issue

2

1 reference

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29 December 2019

page(s)

101-105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

Tricellulin is a tight-junction protein necessary for hearing

29 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

A combined linkage-physical map of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Primer3 on the WWW for general users and for biologist programmers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Faster sequential genetic linkage computations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Occludin: a novel integral membrane protein localizing at tight junctions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Genetic epidemiology of hearing impairment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Newborn hearing screening: the great omission

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Genes responsible for human hereditary deafness: symphony of a thousand

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

Compartmentalization established by claudin-11-based tight junctions in stria vascularis is required for hearing through generation of endocochlear potential.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757049

10.1007/S10038-007-0209-3

3 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084694%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

18084694

1 reference