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Results 1 - 10 of 16 for Clinical disease
  1. ... GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J ...
  2. ... dosage map of Chromosome 18: a map with clinical utility. Genet Med. 2009 Nov;11(11):778-82. doi: 10.1097/GIM.0b013e3181b6573d. Citation on PubMed Ensembl Human Map View Gilbert F. Disease genes and chromosomes: disease maps of the human ...
  3. ... U, List A, MacBeth KJ. Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014 Jan;93(1):1- ...
  4. ... Molecular characterization of partial trisomy 16q24.1-qter: clinical report and ... 16 Gilbert F. Disease genes and chromosomes: disease maps of the human ...
  5. ... genomic rearrangements of 17q12 are associated with renal disease, diabetes, and ... spectrum associated with recurrent genomic rearrangements in chromosome ...
  6. ... on PubMed Gilbert F. Disease genes and chromosomes: disease maps of the ... (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype. ...
  7. ... Central Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol ... Micheli R, Gagliardi C, Balottin U. Relationship between clinical and genetic features in "inverted duplicated chromosome 15" ...
  8. ... 2 Falk RE, Casas KA. Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C ... The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in ...
  9. ... S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males ... chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects ( ...
  10. ... B. Genetic aberrations including chromosome 1 abnormalities and clinical features of plasma cell leukemia. Leuk Res. 2009 ... 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. ...
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