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Results 1 - 10 of 64 for Expanding
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Frontonasal dysplasia 
    ... ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  7. CHARGE syndrome 
    ... and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011 May;48(5): ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  8. Blepharocheilodontic syndrome 
    ... T, Alsaif S. Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  9. Genetic epilepsy with febrile seizures plus 
    ... Shanmugham A, Butler E, Richard G, McKnight D. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  10. Blau syndrome 
    ... Wouters CH. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a ...
    https://medlineplus.gov/genetics/condition/blau-syndrome - Genetics
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