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Subject : genetic testing Publisher : wolters kluwer india pvt ltd
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Academic Journal

Maternally Inherited Diabetes Mellitus and Deafness (MIDD): A Case Report and Review of Literature.

Subjects: GENETICS of diabetes; GENETICS of deafness; PHYSICAL diagnosis

  • Source: Journal of Diabetology: Official Journal of Diabetes in Asia Study Group; Jul-Sep2023, Vol. 14 Issue 3, p173-176, 4p

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Academic Journal

SLC26A4 Pathogenic Variants as a Third Cause of Hearing Loss: Role of Three Exons in DFNB4 Deafness in Iran.

Subjects: HEARING disorders; MICROSATELLITE repeats; GENETIC testingIRAN

  • Source: Indian Journal of Otology; Jul-Sep2019, Vol. 25 Issue 3, p146-150, 5p

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Academic Journal

Neuro-ichthyotic syndromes: A case series.

Subjects: NEUROLOGICAL disorders -- Genetic aspects; CONSANGUINITY; DEAFNESS

  • Source: Journal of Pediatric Neurosciences; Jan-Mar2018, Vol. 13 Issue 1, p34-38, 5p

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Academic Journal

Clinico-radiological profile of children with pontocerebellar hypoplasia.

Subjects: DIAGNOSIS of brain diseases; DIAGNOSIS of epilepsy; SPASTICITY diagnosis

  • Source: Journal of Pediatric Neurosciences; Apr-Jun2020, Vol. 15 Issue 2, p94-98, 5p

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Academic Journal

Carrier frequency of connexin26 W24X mutation in the population of Kerala, India.

Subjects: GENETIC testing; TRANSPORTATION rates; GENETIC mutationINDIA

  • Source: Indian Journal of Otology; Oct-Dec2021, Vol. 27 Issue 4, p222-224, 3p

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Academic Journal

Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case.

Subjects: TRANSTHYRETIN; AMYLOID; GENETIC mutationINDIA

  • Source: Annals of African Medicine; Jul-Sep2022, Vol. 21 Issue 3, p296-298, 3p

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Academic Journal

Clinical and genetic characteristics of 18 cases with suspected congenital long QT syndrome: A retrospective cross-sectional study.

Subjects: CROSS-sectional method; LONG QT syndrome; HUMAN abnormalitiesCHINA

  • Source: Heart & Mind; Apr-Jun2024, Vol. 8 Issue 2, p117-123, 7p

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Academic Journal

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Subjects: GENETIC testing; RETINITIS pigmentosa; NUCLEOTIDE sequencingINDIA

  • Source: Indian Journal of Ophthalmology; Jun2023, Vol. 71 Issue 6, p2512-2520, 15p

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Academic Journal

Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation.

Subjects: GENETIC mutation; GENETIC testing; KIDNEY diseases

  • Source: Indian Journal of Nephrology; May/Jun2023, Vol. 33 Issue 3, p209-212, 4p

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Academic Journal

Wilson disease in children and young adults - State of the art.

Subjects: COPPER metabolism; HEPATOLENTICULAR degeneration diagnosis; GENETIC mutation

  • Source: Saudi Journal of Gastroenterology; Jan/Feb2022, Vol. 28 Issue 1, p21-31, 11p

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  • 1-10 of  18 results for ""Deafness""