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Results 1 - 10 of 10 for "Al-Gazali" syndrome
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  1. Hennekam syndrome 
    ... LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1; HKLLS1 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 PubMed Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  2. Stüve-Wiedemann syndrome 
    ... National Organization for Rare Disorders (NORD) STUVE-WIEDEMANN SYNDROME 1; STWS1 PubMed Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  3. Cold-induced sweating syndrome 
    ... Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Am J Hum Genet. 2007 May;80(5): ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  4. Multiple pterygium syndrome 
    ... S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2): ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  5. Donnai-Barrow syndrome 
    ... 07)60004-7. Citation on PubMed Kantarci S, Al-Gazali L, Hill ... and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug;39(8):957-9. ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics
  6. Schwartz-Jampel syndrome 
    ... on PubMed Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic ... type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  7. Wiedemann-Rautenstrauch syndrome 
    ... E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, ... cause Wiedemann-Rautenstrauch syndrome. J Med Genet. 2018 Dec;55(12):837- ...
    https://medlineplus.gov/.../wiedemann-rautenstrauch-syndrome - Genetics
  8. SRD5A3-congenital disorder of glycosylation 
    ... Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van ... syndrome with abnormal glycosylation due to abnormalities in dolichol ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  9. Vici syndrome 
    ... C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare ... Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  10. Ophthalmo-acromelic syndrome 
    ... J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics