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Results 1 - 10 of 26 for "Al-Gazali" syndrome
Did you mean "Al-kazal" syndrome?
  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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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