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Genetic disorder

  • Case Study: Testing for Genetic Disorders

    Case Study: Testing for Genetic Disorders

  • DOI: 10.4274/Jcrpe.Galenos.2021.2020.0175

    DOI: 10.4274/Jcrpe.Galenos.2021.2020.0175

  • Inheriting Genetic Conditions

    Inheriting Genetic Conditions

  • Restoration of Fertility by Gonadotropin Replacement in a Man With

    Restoration of Fertility by Gonadotropin Replacement in a Man With

  • A New Age in the Genetics of Deafness

    A New Age in the Genetics of Deafness

  • Waardenburg Syndrome: Case Series

    Waardenburg Syndrome: Case Series

  • Hearing Loss in Waardenburg Syndrome: a Systematic Review

    Hearing Loss in Waardenburg Syndrome: a Systematic Review

  • Table of Genetic Disorders Disease Gene/Defect Inheritance Clinical

    Table of Genetic Disorders Disease Gene/Defect Inheritance Clinical

  • Hereditary Hearing Impairment with Cutaneous Abnormalities

    Hereditary Hearing Impairment with Cutaneous Abnormalities

  • Mutation of the KIT (Mast/Stem Cell Growth Factor Receptor

    Mutation of the KIT (Mast/Stem Cell Growth Factor Receptor

  • 2012 CKD Guideline

    2012 CKD Guideline

  • Diagnosis, Treatment, and Outcomes in Children with Congenital Nephrogenic Diabetes Insipidus: a Pediatric Nephrology Research Consortium Study

    Diagnosis, Treatment, and Outcomes in Children with Congenital Nephrogenic Diabetes Insipidus: a Pediatric Nephrology Research Consortium Study

  • A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes

    A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes

  • An Alport Syndrome Boy with Van Wyk-Grumbach Syndrome Induced by Prolonged Untreated Congenital Hypothyroidism

    An Alport Syndrome Boy with Van Wyk-Grumbach Syndrome Induced by Prolonged Untreated Congenital Hypothyroidism

  • Neonatal Diabetes Mellitus and Congenital

    Neonatal Diabetes Mellitus and Congenital

  • Osteopetrosis, a Rare Cause for Bone Marrow Failure

    Osteopetrosis, a Rare Cause for Bone Marrow Failure

  • Case Report Systemic Pseudohypoaldosteronism Type I: a Case Report and Review of the Literature

    Case Report Systemic Pseudohypoaldosteronism Type I: a Case Report and Review of the Literature

  • Human Osteopetroses and the Osteoclast V-H+-Atpase Enzyme

    Human Osteopetroses and the Osteoclast V-H+-Atpase Enzyme

Top View
  • Genes and Hearing Loss One of the Most Common Birth Defects Is Hearing Loss Or Deafness (Congenital), Which Can Affect As Many As Three of Every 1,000 Babies Born
  • Genetic Bases of Short Stature Bases Genéticas De La Talla Baja
  • Genetic Disorders
  • Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: a Review
  • The Channelopathies: Novel Insights Into Molecular and Genetic Mechanisms of Human Disease
  • Genetic Disorder Websites Links
  • Achondroplasia and Other Short Statured Droplasia, Can I Still Have a Child with the Condition? Syndromes [Online] Yes
  • (Steel Factor Receptor) Gene in Human Piebaldism Kazuhiko Ezoe,' Stuart A
  • Newborn Screening Fact Sheets
  • World Journal of Biological Chemistry
  • Al-Juraibah, FN, Lucas-Herald, AK, Alimussina
  • Ion Channels and Channelopathies
  • Hypothyroidism and Hyperthyroidism
  • Genetic Testing for Nonsyndromic Hearing Loss and Deafness
  • A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan
  • Cafaulait Macules and Intertriginous Freckling in Piebaldism: Clinical
  • Review Article Piebaldism in to Balo, South Sulawesi
  • ENT Genetics


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