(Q30474292)

English

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

scientific article

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement (English)

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

Congenital hearing loss

1 reference

based on heuristic

inferred from title

Richard J Smith

1 reference

ORCID Public Data File 2021

author name string

ACMG

1

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

language of work or name

0 references

publication date

1 May 2002

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Genetics in Medicine

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

4

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

162-171

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

U.S. newborn screening policy dilemmas for the twenty-first century

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

At the speed of sound: gene discovery in the auditory system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

A genetic approach to understanding auditory function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

The Genetic Privacy Act: an analysis of privacy and research concerns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Parental attitudes toward genetic testing for pediatric deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Associa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Attitudes of deaf adults toward genetic testing for hereditary deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Genetic epidemiology of hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

20 June 2018

Newborn and infant hearing loss: detection and intervention.American Academy of Pediatrics. Task Force on Newborn and Infant Hearing, 1998- 1999.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Identification of neonatal hearing impairment: summary and recommendations.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Language of early- and later-identified children with hearing loss.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Assessment of stress in mothers of children with severe breath-holding spells.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Prenatal diagnosis for inherited deafness--what is the potential demand?

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Whose gene is it? A case discussion about familial conflict over genetic testing for breast cancer

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200205000-00011

21 January 2018

Early intervention and language development in children who are deaf and hard of hearing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110944

26 November 2018

Whose genes are these anyway?: familial conflicts over access to genetic information

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA blueprints, personhood, and genetic privacy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serving the family from birth to the medical home. A report from the Newborn Screening Task Force convened in Washington DC, May 10-11, 1999

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Year 2000 Position Statement: Principles and Guidelines for Early Hearing Detection and Intervention Programs.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Joint Committee on Infant Hearing 1994 Position Statement. American Academy of Pediatrics Joint Committee on Infant Hearing

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early identification of hearing impairment in infants and young children

1 reference

https://pubmed.ncbi.nlm.nih.gov/12180152

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/00125817-200205000-00011

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

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