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Results 1 - 10 of 170 for robinson
  1. Snyder-Robinson syndrome 
    Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  2. SMS gene 
    ... SMS gene have been found to cause Snyder-Robinson syndrome, a condition characterized by intellectual disability and ... to the specific signs and symptoms of Snyder-Robinson syndrome. More About This Health Condition spermidine aminopropyltransferase ...
    https://medlineplus.gov/genetics/gene/sms - Genetics
  3. Mabry syndrome 
    ... Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Mutations in PIGO, a member ... Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 mutations, affecting the GPI- ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  4. SOX2 gene 
    ... 2008 Dec 12. Citation on PubMed Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla ... Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. SOX2 plays a ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  5. Septo-optic dysplasia 
    ... Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 ... 10.1038/477. Citation on PubMed Dattani MT, Robinson IC. HESX1 and Septo-Optic Dysplasia. Rev Endocr ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  6. HESX1 gene 
    ... Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 ... 10.1038/477. Citation on PubMed Dattani MT, Robinson IC. HESX1 and Septo-Optic Dysplasia. Rev Endocr ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  7. Chromosome 16 
    ... Kalousek DK, Miny P, Exeler R, Morris K, Robinson WP. Postnatal follow-up of prenatally diagnosed trisomy ... Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  8. FBN1 gene 
    ... Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Ades L, De Backer J, Coucke P, ... Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  9. PIGV gene 
    ... Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Identity-by-descent filtering of exome sequence ... Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T. Mechanism ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics
  10. PDHA1 gene 
    ... Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Mutations in the X-linked E1 alpha ... Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A. Mutations in the X-linked ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
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