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Results 1 - 10 of 100 for Clinical series
  1. Pfeiffer syndrome 
    ... B, McCarthy JG. Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  2. Thrombocytopenia-absent radius syndrome 
    ... Hanu S. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  3. GAA gene 
    ... RJ, Marie SK. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  4. CHRNE gene 
    ... Carr A, McConville J, Robb S, Beeson D. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul Disord. ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  5. Hidradenitis suppurativa 
    ... F, Poli F, Faye O, Bastuji-Garin S. Clinical characteristics of a series of 302 French patients with hidradenitis suppurativa, with ...
    https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa - Genetics
  6. VEXAS syndrome 
    ... MM, Burke MM, Michet CJ Jr, Warrington KJ. Clinical Heterogeneity of the VEXAS Syndrome: A Case Series. Mayo Clin Proc. 2021 Oct;96(10):2653- ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  7. Junctional epidermolysis bullosa 
    ... E. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol. 2002 ...
    https://medlineplus.gov/.../junctional-epidermolysis-bullosa - Genetics
  8. HNF1B gene 
    ... Poussou R, de Baaij JH. Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. Am J Nephrol. 2015;42( ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  9. PLG gene 
    ... Zeitler P, Ziegler M, Schuster V. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood. 2006 Nov 1;108( ...
    https://medlineplus.gov/genetics/gene/plg - Genetics
  10. Mevalonate kinase deficiency 
    ... International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine ( ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
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