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Content Provider : Complementary Index Subject : genetic mutation Subject : nucleotide sequencing Geographic : iran Filter by : Keyword
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Academic Journal

New Variants in the CDH1 Gene in Iranian Families with Hereditary Diffuse Gastric Cancer.

Subjects: DNA; FAMILIES; GENE expressionIRAN

  • Source: Middle East Journal of Cancer; Oct2020, Vol. 11 Issue 4, p493-501, 9p

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Academic Journal

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.

Subjects: SEQUENCE analysis; GENETIC mutation; MACROCYTIC anemiaIRAN

  • Source: Laboratory Medicine; Nov2022, Vol. 53 Issue 6, p640-650, 11p

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Academic Journal

Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.

Subjects: GENETICS of deafness; DNA analysis; ALLELESIRAN

  • Source: Acta Oto-Laryngologica; Feb2015, Vol. 135 Issue 2, p125-129, 5p

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Academic Journal

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.

Subjects: HEARING disorders; CHROMOSOME abnormalities; FAMILIESIRAN

  • Source: Journal of Research in Medical Sciences; Aug2017, Vol. 22, p1-6, 6p

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Academic Journal

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

Subjects: ACIDOSIS; GENES; HEARING disordersIRAN

  • Source: Journal of Laryngology & Otology; Dec2014, Vol. 128 Issue 12, p1056-1059, 4p

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Academic Journal

Early-Onset Alzheimer's Disease in Two Iranian Families: A Genetic Study.

Subjects: ALZHEIMER'S disease diagnosis; AGE factors in disease; BLOOD testingIRAN

  • Source: Dementia & Geriatric Cognitive Disorders; Oct2014, Vol. 38 Issue 5/6, p330-336, 7p, 2 Diagrams, 2 Charts

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Academic Journal

Mutation Analysis inF9Gene of 17 Families with Haemophilia B from Iran.

Subjects: HEMOPHILIA; GEL electrophoresis; EXONS (Genetics)IRAN

  • Source: Haemophilia; Nov2004, Vol. 10 Issue 6, p751-755, 5p

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Academic Journal

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Subjects: INSERTION mutation; SPEECH disorders; FRAMESHIFT mutationIRAN

  • Source: Molecular Genetics & Genomic Medicine; Dec2023, Vol. 11 Issue 12, p1-11, 11p

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Academic Journal

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Subjects: GENETIC mutation; HEARING disorders; GENOMICSIRAN

  • Source: European Journal of Pediatrics; Jun2009, Vol. 168 Issue 6, p651-653, 3p, 1 Chart

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Academic Journal

A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.

Subjects: GENETIC variation; BRCA genes; FREQUENCY spectraIRAN

  • Source: Familial Cancer; Apr2022, Vol. 21 Issue 2, p137-142, 6p

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  • 1-10 of  27 results for ""FAMILIES""