Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 19 for Definitions
  1. Epilepsy-aphasia spectrum 
    ... Auvin S. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position ... by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1398-1442. doi: ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  2. Cryopyrin-associated periodic syndromes 
    ... Delphi study participants. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  3. 1p36 deletion syndrome 
    ... of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included ...
    https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome - Genetics
  4. Autism spectrum disorder 
    ... many affected individuals fall outside of the strict definitions of the narrower diagnoses, and their intellectual and ...
    https://medlineplus.gov/genetics/condition/autism-spectrum-disorder - Genetics
  5. 2q37 deletion syndrome 
    ... analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  6. Ring chromosome 14 syndrome 
    ... 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
  7. Potocki-Lupski syndrome 
    ... S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  8. Lennox-Gastaut syndrome 
    ... 1111/epi.12567. Citation on PubMed Camfield PR. Definition and natural history of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  9. CHST3-related skeletal dysplasia 
    ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  10. Leber congenital amaurosis 
    ... 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
previous · 1 · 2 · next