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Results 1 - 10 of 1,255 for des
  1. Koolen-de Vries syndrome 
    Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  2. Mal de Meleda 
    Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the ...
    https://medlineplus.gov/genetics/condition/mal-de-meleda - Genetics
  3. Cornelia de Lange syndrome 
    Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this ... and range from relatively mild to severe.Cornelia de Lange syndrome is characterized by slow growth before ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  4. DES gene 
    The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and ... and relaxation. More than 40 mutations in the DES gene have been found to cause myofibrillar myopathy. ...
    https://medlineplus.gov/genetics/gene/des - Genetics
  5. Tourette syndrome 
    ... gene. Chronic motor and vocal tic disorder Gilles de la Tourette syndrome Gilles de la Tourette's syndrome GTS TD Tourette disorder ... Organization for Rare Disorders (NORD) ClinicalTrials.gov GILLES DE LA TOURETTE SYNDROME; GTS PubMed Abelson JF, Kwan ...
    https://medlineplus.gov/genetics/condition/tourette-syndrome - Genetics
  6. Atelosteogenesis type 2 
    ... signs and symptoms of the condition. AO2 Atelosteogenesis de la Chapelle type Atelosteogenesis, type 2 De la Chapelle dysplasia McAlister dysplasia Neonatal osseous dysplasia ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 - Genetics
  7. DNMT3A gene 
    ... Central Chedin F. The DNMT3 family of mammalian de novo DNA methyltransferases. Prog Mol Biol Transl Sci. ... Free article on PubMed Central Hsieh CL. The de novo methylation activity of Dnmt3a is distinctly different ...
    https://medlineplus.gov/genetics/gene/dnmt3a - Genetics
  8. KCNH2 gene 
    ... EJ, Powell J, Elayi CS, Bartos DC, Burgess DE, Delisle BP. Mechanistic basis for type 2 long ... Citation on PubMed Smith JL, Anderson CL, Burgess DE, Elayi CS, January CT, Delisle BP. Molecular pathogenesis ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  9. KCNQ1 gene 
    ... A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  10. Septo-optic dysplasia 
    ... each cell is sufficient to cause the condition. De Morsier syndrome Septooptic dysplasia SOD Genetic Testing Registry: ... Epub 2008 Feb 6. Citation on PubMed McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
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