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Results 1 - 10 of 10 for proposal
  1. CHARGE syndrome 
    ... phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am ... A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005 Mar 15; ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  2. Nonsyndromic aplasia cutis congenita 
    ... IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986 Apr; ... Aplasia cutis congenita: review of 29 cases and proposal of a therapeutic strategy. Eur J Pediatr Surg. ...
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita - Genetics
  3. Adiposis dolorosa 
    ... Brorson H. Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management. ...
    https://medlineplus.gov/genetics/condition/adiposis-dolorosa - Genetics
  4. Potocki-Shaffer syndrome 
    ... comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  5. Systemic mastocytosis 
    ... algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM). Am J ...
    https://medlineplus.gov/genetics/condition/systemic-mastocytosis - Genetics
  6. Hyaline fibromatosis syndrome 
    ... mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  7. X-linked lissencephaly with abnormal genitalia 
    ... as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  8. Craniofacial microsomia 
    ... evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  9. Cryopyrin-associated periodic syndromes 
    ... PRINTO) and the AIDs Delphi study participants. Consensus proposal for taxonomy and definition of the autoinflammatory diseases ( ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  10. ARX gene 
    ... as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics