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Results 1 - 9 of 9 for Clinical case definition
  1. Leber congenital amaurosis 
    ... survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. Ring chromosome 14 syndrome 
    ... Scarano A, Neri G. The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A. 2009 Jun;149A( ...
    https://medlineplus.gov/.../condition/ring-chromosome-14-syndrome - Genetics
  3. Chromosome 2 
    ... 27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features. Leukemia. 2004 Jun; ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  4. Epilepsy-aphasia spectrum 
    ... by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1398-1442. doi: 10.1111/epi.17241. Epub 2022 May 3. Citation on PubMed Tsai MH, Vears DF, Turner SJ, Smith RL, Berkovic SF, Sadleir LG, Scheffer IE. Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia. ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  5. 3p deletion syndrome 
    ... with intellectual disability and dysmorphic features with further definition of a ... and clinical characterization of three small distal deletions and review. ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  6. 1p36 deletion syndrome 
    ... of hematological neoplasias with 1p36 rearrangements allows the definition of a ... syndrome: report of one case and review of the English literature. Int J ...
    https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome - Genetics
  7. Chromosome 1 
    ... Gregory SG, Hogarty MD, Maris JM, Brodeur GM. Definition and characterization of a region of 1p36.3 ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  8. 2q37 deletion syndrome 
    ... analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J ... The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  9. Chromosome 15 
    ... confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J ...
    https://medlineplus.gov/genetics/chromosome/15 - Genetics