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Results 1 - 10 of 88 for david
  1. ZIC2 gene 
    ... ZIC2 NCBI Gene ClinVar Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado ... Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb ...
    https://medlineplus.gov/genetics/gene/zic2 - Genetics
  2. Nonsyndromic holoprosencephaly 
    ... Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb ... Citation on PubMed Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. Current recommendations for ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  3. SHH gene 
    ... Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb ... Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. The mutational spectrum of holoprosencephaly- ...
    https://medlineplus.gov/genetics/gene/shh - Genetics
  4. TGIF1 gene 
    ... Blayau M, Pasquier L, Lazaro L, Odent S, David V. Molecular screening of the TGIF gene in ... Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb ...
    https://medlineplus.gov/genetics/gene/tgif1 - Genetics
  5. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, ... Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, ...
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics
  6. 16p11.2 duplication 
    ... Mace A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira ... Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  7. Koolen-de Vries syndrome 
    ... Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, ... Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. Clinical and molecular characterization of ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  8. 3-beta-hydroxysteroid dehydrogenase deficiency 
    ... A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S. Newly proposed hormonal criteria via ... on PubMed Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie ...
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency - Genetics
  9. Apert syndrome 
    ... 76. doi: 10.2741/1671. Citation on PubMed David DJ, Anderson P, Flapper W, Syme-Grant J, ... Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Apert ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  10. Spondylocarpotarsal synostosis syndrome 
    ... Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, ... M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S. Autosomal dominant spondylocarpotarsal synostosis syndrome: ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics
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