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Results 1 - 10 of 114 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. Feingold syndrome 
    ... PubMed Central Grote LE, Repnikova EA, Amudhavalli SM. Expanding the phenotype of feingold syndrome-2. Am J ... P, Kosztolanyi G, van Bokhoven H, Kellermayer R. Expanding the clinical spectrum of MYCN-related Feingold syndrome. ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  3. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... 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/...nd-brainstem-involvement-and-high-lactate - Genetics
  4. GLUT1 deficiency syndrome 
    ... DEFICIENCY SYNDROME 1; GLUT1DS1 PubMed Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009 ... Willemsen MA. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  5. 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
  6. What are genome editing and CRISPR-Cas9?: MedlinePlus Genetics 
    ... from PubMed Central: PMC5544380 . Gupta RM, Musunuru K. Expanding the genetic editing tool kit: ZFNs, TALENs, and ...
    https://medlineplus.gov/.../genomicresearch/genomeediting - Genetics
  7. 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
  8. What is the Precision Medicine Initiative?: MedlinePlus Genetics 
    ... long-term goals. The short-term goals involve expanding precision medicine in the area of cancer research. ...
    https://medlineplus.gov/.../precisionmedicine/initiative - Genetics
  9. Hyperkalemic periodic paralysis 
    ... HYPERKALEMIC PERIODIC PARALYSIS; HYPP PubMed Cannon SC. An expanding view for the molecular basis of familial periodic ...
    https://medlineplus.gov/.../hyperkalemic-periodic-paralysis - Genetics
  10. Metatropic dysplasia 
    ... chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
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