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Results 1 - 10 of 1,224 for reviews syndrome
  1. Klinefelter syndrome 
    ... A, Host C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab. 2013 ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  2. 8p11 myeloproliferative syndrome 
    ... A, Bayerl M, Cornfield D. The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. Int ... Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010 Apr;41(4):461-76. ...
    https://medlineplus.gov/.../8p11-myeloproliferative-syndrome - Genetics
  3. Kabuki syndrome 
    ... C, Bodamer OA. From Genotype to Phenotype-A Review of Kabuki Syndrome. Genes (Basel). 2022 Sep 29;13(10):1761. ... Q, Wang J, Xiong F, Qiu Z. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  4. 1p36 deletion syndrome 
    ... C, Vialard F, Doco-Fenzy M. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, ... IS. Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. Int J Cardiol. 2004 ...
    https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome - Genetics
  5. Cockayne syndrome 
    ... Citation on PubMed Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992 Jan 1;42(1):68-84. doi: 10.1002/ajmg.1320420115. Citation on PubMed ... Evidence for impaired development, premature aging, and neurodegeneration. ...
    https://medlineplus.gov/genetics/condition/cockayne-syndrome - Genetics
  6. Hutchinson-Gilford progeria syndrome 
    ... Citation on PubMed Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006 Dec 1;140(23):2603-24. doi: 10.1002/ajmg.a.31346. Citation on PubMed Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet. 2004 Nov;66(5):375-81. ...
    https://medlineplus.gov/.../hutchinson-gilford-progeria-syndrome - Genetics
  7. Oral-facial-digital syndrome 
    ... B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2007 Dec 15;143A(24):3314-23. doi: 10.1002/ajmg.a.32032. Citation on PubMed Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  8. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. ... Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  9. Chromosome 1 
    ... C, Vialard F, Doco-Fenzy M. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  10. Stickler syndrome 
    ... PubMed Boothe M, Morris R, Robin N. Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. J Pers Med. 2020 Aug 27;10(3):105. doi: 10.3390/jpm10030105. Citation on PubMed ... P. Autosomal recessive Stickler syndrome due to a loss of function mutation in ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
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