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Results 1 - 10 of 215 for Aspects
  1. CDKL5 deficiency disorder 
    ... in infancy, followed by significant delays in many aspects of development.Seizures in CDKL5 deficiency disorder usually ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  2. CPT1A gene 
    ... palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med. 2004 Oct-Dec;25(5-6):495- ... on CoA pools in health and disease. Mol Aspects Med. 2004 Oct-Dec;25(5-6):475- ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  3. X chromosome 
    ... multiple genes on the X chromosome affects many aspects of development, including sexual development before birth and ... multiple genes on the X chromosome affects many aspects of development, including sexual development before birth and ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  4. X-linked creatine deficiency 
    ... Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. ... Salomons GS. X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. 2014 Sep; ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  5. Autism spectrum disorder 
    ... The proteins produced from these genes affect multiple aspects of brain development, including production, growth, and organization ... Central Liu X, Takumi T. Genomic and genetic aspects of autism spectrum disorder. Biochem Biophys Res Commun. ...
    https://medlineplus.gov/genetics/condition/autism-spectrum-disorder - Genetics
  6. SLC6A8 gene 
    ... Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. ... Salomons GS. X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. 2014 Sep; ...
    https://medlineplus.gov/genetics/gene/slc6a8 - Genetics
  7. Myotonic dystrophy 
    ... Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. ... Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  8. Klinefelter syndrome 
    ... activity of these extra genes may disrupt many aspects of development and are responsible for the common ... JC, Maiburg MC. Klinefelter syndrome: clinical and molecular aspects. Expert Rev Mol Diagn. 2010 Sep;10(6): ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  9. X-linked adrenoleukodystrophy 
    ... J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta. 2006 Dec;1763(12):1721- ... X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012 Sep;1822(9):1465- ...
    https://medlineplus.gov/.../condition/x-linked-adrenoleukodystrophy - Genetics
  10. Walker-Warburg syndrome 
    ... M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of alpha-dystroglycan and therapeutic ... the treatment of alpha-dystroglycanopathy: A review. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10. ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
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