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Results 1 - 10 of 52 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. 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
  4. 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
  5. 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
  6. 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
  7. Congenital plasminogen deficiency 
    ... 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/.../congenital-plasminogen-deficiency - Genetics
  8. PMM2-congenital disorder of glycosylation 
    ... JM, Cormier-Daire V. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001 Jan; ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  9. Sandhoff disease 
    ... Ashrafi MR, Rezaei Z, Zschocke J, Rostami P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  10. Familial cold autoinflammatory syndrome type 2 
    ... Z, Jian S, Tang XY, Song HM. The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review. World J Pediatr. 2020 Oct; ...
    https://medlineplus.gov/...ial-cold-autoinflammatory-syndrome-type-2 - Genetics
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