Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Report

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

  • Authors : Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Purushothama G

Subjects: Genetic Predisposition to Disease*; Choanal Atresia/Choanal Atresia/Choanal Atresia/*genetics ; Deafness/Deafness/Deafness/*congenital Burn-Mckeown syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1313-1315. Date of Electronic Publication: 2020 Mar 18.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

A questionnaire-based analysis of parental perspectives on pediatric cochlear implant (CI) re/habilitation services: a pilot study from a developing CI service in India.

  • Authors : Dev AN; a Vani Pradan Kendra , Bangalore , India.; Lohith U

Subjects: Cochlear Implantation/Cochlear Implantation/Cochlear Implantation/*psychology ; Correction of Hearing Impairment/Correction of Hearing Impairment/Correction of Hearing Impairment/*psychology ; Deafness/Deafness/Deafness/*rehabilitation

  • Source: Cochlear implants international [Cochlear Implants Int] 2018 Nov; Vol. 19 (6), pp. 338-349. Date of Electronic Publication: 2018 Jun 29.Publisher: Taylor & Francis Country of Publication: England NLM ID: 101121166 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India.

  • Authors : Singh PK; Division of Genetics, Department of Pediatrics, All Institute of Medical Sciences, New Delhi, India.; Ghosh M

Subjects: Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*geneticsNonsyndromic Deafness

  • Source: The Indian journal of medical research [Indian J Med Res] 2017 Apr; Vol. 145 (4), pp. 492-497.Publisher: Medknow Country of Publication: India NLM ID: 0374701 Publication Model: Print Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

  • Authors : Kuchay RAH; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, India. Electronic address: .; Mir YR

Subjects: Deafness/Deafness/Deafness/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Mutation/Mutation/Mutation/*geneticsNonsyndromic Deafness

  • Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2020 Mar; Vol. 130, pp. 109831. Date of Electronic Publication: 2019 Dec 16.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

Record details

×
Academic Journal

Embracing Multiple Normals - A 12-Year-Old Boy in India with a Cochlear Implant.

  • Authors : Friedner M; From the University of Chicago, Chicago (M.F., A.M.); the Times of India, Delhi (R.N.)

Subjects: Sign Language* ; Social Norms*; Cochlear Implants/Cochlear Implants/Cochlear Implants/*economics

  • Source: The New England journal of medicine [N Engl J Med] 2019 Dec 19; Vol. 381 (25), pp. 2381-2384.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:

Record details

×