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Results 1 - 10 of 1,142 for Client
  1. What are some potential benefits of precision medicine and the Precision Medicine Initiative?: MedlinePlus Genetics 
    ... Initiative: New approaches for protecting research participants, particularly patients' privacy and the confidentiality of their data. Design ... of specialties, as well as people from the patient advocacy community, universities, pharmaceutical companies, and others. Opportunity ...
    https://medlineplus.gov/.../precisionmedicine/potentialbenefits - Genetics
  2. Kabuki syndrome 
    ... Matsumoto N, Niikawa N. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet. 2009 May; ... a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012 ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  3. CREBBP gene 
    ... sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117( ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  4. CHD7 gene 
    ... Crowley WF Jr. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci ... results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  5. 17-beta hydroxysteroid dehydrogenase 3 deficiency 
    ... Odermatt A, Belguith N. Novel cases of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid ... Guerra-Junior G. Clinical and molecular spectrum of patients with 17beta-hydroxysteroid dehydrogenase type 3 (17-beta- ...
    https://medlineplus.gov/...hydroxysteroid-dehydrogenase-3-deficiency - Genetics
  6. Rubinstein-Taybi syndrome 
    ... syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 ... sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  7. Pelizaeus-Merzbacher disease 
    ... Bessert D, Skoff RP. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. Neurosci Lett. 2016 Aug ... Zacharska D, Szczepanik E. Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. Folia Neuropathol. 2016;54( ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  8. USH2A gene 
    ... the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol. 2015 Feb;133(2):157-64. ... the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  9. Nonbullous congenital ichthyosiform erythroderma 
    ... Sprecher E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation ... and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  10. MEFV gene 
    ... SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 Apr; ... J, Megarbane A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA ...
    https://medlineplus.gov/genetics/gene/mefv - Genetics
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