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Results 1 - 10 of 47 for Expanding
  1. SLC2A1 gene 
    ... 1; SLC2A1 NCBI Gene ClinVar Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009 ... J. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. ...
    https://medlineplus.gov/genetics/gene/slc2a1 - Genetics
  2. EARS2 gene 
    ... Minetti C, Santorelli FM, Zeviani M, Bruno C. Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy ... Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL. Neuropediatrics. 2016 Jan;47( ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  3. EFTUD2 gene 
    ... and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  4. TERT gene 
    ... Avigdor A, Garty BZ, Volkov A, Vulliamy T. Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  5. COL1A1 gene 
    ... Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  6. CHD7 gene 
    ... and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011 May;48(5): ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  7. ALX1 gene 
    ... ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal ...
    https://medlineplus.gov/genetics/gene/alx1 - Genetics
  8. CACNA1A gene 
    ... Van den Maagdenberg AM, Frants RR, Ferrari MD. Expanding the phenotypic spectrum of the CACNA1A gene T666M ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  9. KRT6C gene 
    ... Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 ...
    https://medlineplus.gov/genetics/gene/krt6c - Genetics
  10. HEPACAM gene 
    ... Simonati A, Pusch M, Bertini E, Estevez R. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
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