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Results 1 - 10 of 16 for "Al-Gazali" syndrome
Did you mean "Al-kazal" syndrome?
  1. CEP290 gene 
    ... Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. FREM1 gene 
    ... Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet. 2009 Sep;85(3): ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  3. FAT4 gene 
    ... CADHERIN 4; FAT4 NCBI Gene ClinVar Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Hennekam syndrome can be caused by FAT4 mutations and be ...
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  4. CRLF1 gene 
    ... 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/genetics/gene/crlf1 - Genetics
  5. CHRNG gene 
    ... 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/genetics/gene/chrng - Genetics
  6. MKKS gene 
    ... 1. Citation on PubMed Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, ... syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  7. LRP2 gene 
    ... or Free article on PubMed Central Kantarci S, Al-Gazali L, ... and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug;39(8):957-9. ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  8. POLR3A gene 
    ... 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/genetics/gene/polr3a - Genetics
  9. LIFR gene 
    ... Gene ClinVar ... mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  10. SRD5A3 gene 
    ... 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/genetics/gene/srd5a3 - Genetics
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