(Q33904168)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

7

1 reference

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25 December 2019

Rafał Płoski

10

1 reference

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25 December 2019

Umberto Ambrosetti

13

1 reference

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25 December 2019

Andreas Janecke

25

1 reference

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25 December 2019

Alessandro Martini

27

1 reference

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25 December 2019

Ignacio del Castillo

31

1 reference

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25 December 2019

Vasiliki Vivian Iliadou

34

1 reference

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25 December 2019

Mustafa Tekin

35

1 reference

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25 December 2019

Jerzy Bal

38

1 reference

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25 December 2019

Paul Van de Heyning

39

1 reference

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25 December 2019

Graça Fialho

44

1 reference

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25 December 2019

H. Caria

45

1 reference

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25 December 2019

Karen Grønskov

49

1 reference

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25 December 2019

Richard J Smith

56

1 reference

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25 December 2019

Guy Van Camp

57

1 reference

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25 December 2019

8

Agata Skorka

1 reference

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25 December 2019

22

Sandrine Marlin

1 reference

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Małgorzata Mueller-Malesińska

25 December 2019

6

object named as

Malgorzata Mueller-Malesinska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

52

Ingeborg Dhooge

1 reference

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25 December 2019

23

Françoise Denoyelle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Nele Hilgert

1

1 reference

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25 December 2019

Matthew J Huentelman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ashley Q Thorburn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Erik Fransen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Nele Dieltjens

5

1 reference

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25 December 2019

Jaroslaw Waligora

9

1 reference

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25 December 2019

Pierangela Castorina

11

1 reference

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25 December 2019

Paola Primignani

12

1 reference

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25 December 2019

Alessandra Murgia

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Eva Orzan

15

1 reference

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25 December 2019

Arti Pandya

16

1 reference

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25 December 2019

Kathleen Arnos

17

1 reference

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25 December 2019

Virginia Norris

18

1 reference

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25 December 2019

Pavel Seeman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Petr Janousek

20

1 reference

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25 December 2019

Delphine Feldmann

21

1 reference

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25 December 2019

Carla J Nishimura

24

1 reference

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25 December 2019

Doris Nekahm-Heis

26

1 reference

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25 December 2019

Elena Mennucci

28

1 reference

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25 December 2019

Timea Tóth

29

1 reference

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25 December 2019

Istvan Sziklai

30

1 reference

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25 December 2019

Felipe Moreno

32

1 reference

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25 December 2019

Michael B Petersen

33

1 reference

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25 December 2019

Armagan Incesulu

36

1 reference

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25 December 2019

Ewa Nowakowska

37

1 reference

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25 December 2019

Anne-Françoise Roux

40

1 reference

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25 December 2019

Catherine Blanchet

41

1 reference

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25 December 2019

Cyril Goizet

42

1 reference

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25 December 2019

Guenaëlle Lancelot

43

1 reference

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25 December 2019

Xue Zhong Liu

46

1 reference

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25 December 2019

Ouyang Xiaomei

47

1 reference

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25 December 2019

Paul Govaerts

48

1 reference

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25 December 2019

Karianne Hostmark

50

1 reference

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25 December 2019

Klemens Frei

51

1 reference

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25 December 2019

Stephen Vlaeminck

53

1 reference

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25 December 2019

Erdmute Kunstmann

54

1 reference

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25 December 2019

Lut Van Laer

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

5 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

25 December 2019

published in

1 reference

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25 December 2019

volume

17

1 reference

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25 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

517-524

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays

25 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=2883287

Whole-genome analysis of sporadic amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

A whole genome association study of neuroticism using DNA pooling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Newborn hearing screening--a silent revolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

GJB2 mutations and degree of hearing loss: a multicenter study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

The mouse APG10 homologue, an E2-like enzyme for Apg12p conjugation, facilitates MAP-LC3 modification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Microtubule-associated protein 1A is a modifier of tubby hearing (moth1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Molecular dissection of autophagy: two ubiquitin-like systems

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883287

High carrier frequency of the 35delG deafness mutation in European populations

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.201

High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.201

Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.201

Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.201

GRR: graphical representation of relationship errors

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18985073

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A quick and simple method for detecting subjects with abnormal genetic background in case-control samples

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18985073

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic model testing and statistical power in population-based association studies of quantitative traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18985073

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.201

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985073%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

PubMed publication ID

18985073

1 reference