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Publisher : galenos yayinevi tic. ltd. sti Subject : genetic testing Subject : genetics
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Academic Journal

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?

Subjects: *HYPOTHYROIDISM; *DEAFNESS; *IODIDES

  • Source: Journal of Clinical Research in Pediatric Endocrinology. Jun2010, Vol. 2 Issue 2, p81-84. 4p. 1 Color Photograph, 1 Chart.

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Academic Journal

Genetic pathogenesis of Perrault Syndrome.

Subjects: *DEAFNESS; *GENETIC research; *GONADAL dysgenesis

  • Source: Journal of the Turkish-German Gynecological Association. Jun2012, Vol. 13 Issue 2, p149-150. 2p.

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Academic Journal

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies.

Subjects: GENETICS of deafness; TREATMENT of hearing disorders; HEARING disordersTURKEY

  • Source: Balkan Medical Journal; Jul2019, Vol. 36 Issue 4, p206-211, 6p

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Academic Journal

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness.

Subjects: ANALYSIS of variance; COCHLEAR implants; COMPARATIVE studies

  • Source: Balkan Medical Journal; Mar2014, p60-63, 4p, 1 Chart, 1 Graph

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Academic Journal

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).

Subjects: WOLFRAM syndrome; AGE factors in disease; DESMOPRESSIN

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2017, Vol. 9 Issue 1, p80-84, 5p

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Academic Journal

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report.

Subjects: TYPE 1 diabetes; VISION testing; INSULIN

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2024, Vol. 16 Issue 1, p102-105, 4p

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Academic Journal

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

Subjects: SENSORINEURAL hearing loss; ANGIOKERATOMA corporis diffusum; GENETIC testing

  • Source: Turkish Archives of Otorhinolaryngology; 2023, Vol. 61 Issue 2, p52-57, 6p

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Academic Journal

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism.

Subjects: IN vitro studies; GENETIC mutation; SEQUENCE analysis

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2022, Vol. 14 Issue 1, p46-55, 10p

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Academic Journal

Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement.

Subjects: NEUROMUSCULAR diseases; CHARCOT-Marie-Tooth disease; PEDIATRIC neurology

  • Source: Journal of Dr. Behcet Uz Children's Hospital; 2022, Vol. 12 Issue 1, p27-36, 10p

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Academic Journal

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.

Subjects: GENETICS of diabetes; GENETICS of epilepsy; INSULIN therapy

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Jun2018, Vol. 10 Issue 2, p168-174, 7p

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