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Subject : genetic testing Publisher : galenos yayinevi tic. ltd. sti
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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

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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Academic Journal

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis.

Subjects: DNA analysis; CONGENITAL hypothyroidism; GENETIC mutationCHINA

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2016, Vol. 8 Issue 1, p21-25, 5p

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  • 1-6 of  6 results for ""Deafness""