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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. 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
  3. 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
  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. 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
  6. 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
  7. 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
  8. Microcephaly-capillary malformation syndrome 
    ... B, Barbarot S, Beneteau C, Le Caignec C, David A. Multiple capillary skin malformations, epilepsy, microcephaly, mental ... Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  9. FAM111B gene 
    ... 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/genetics/gene/fam111b - Genetics
  10. 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
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