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Results 1 - 10 of 47 for Clinical series
  1. 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
  2. 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
  3. 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
  4. 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
  5. HEXB gene 
    ... 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/gene/hexb - Genetics
  6. FUCA1 gene 
    ... Stepien KM, Ciara E, Jezela-Stanek A. Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. Genes (Basel). 2020 Nov 22;11(11):1383. ...
    https://medlineplus.gov/genetics/gene/fuca1 - Genetics
  7. NLRP12 gene 
    ... 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/genetics/gene/nlrp12 - Genetics
  8. UBA1 gene 
    ... group; GFEV, GFM, CEREMAIA, MINHEMON. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022 ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  9. KMT2D gene 
    ... Dotta A, Digilio MC, Dallapiccola B. Kabuki syndrome: clinical and molecular ... a Chinese case series and systematic review of the spectrum of mutations. ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  10. C9orf72 gene 
    ... a segment of DNA made up of a series of six DNA building blocks (nucleotides), four guanines ... the GGGGCC segment of the gene. When this series of nucleotides is repeated too many times, it ...
    https://medlineplus.gov/genetics/gene/c9orf72 - Genetics
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