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- ... G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF ... DN, Debono AG, Morgan-Hughes JA, Hanna MG. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) ...
- ... mapping with further characterization of the phenotype, a new cohort of 86 patients. Am J Med Genet ... proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct;72(4):329- ...
- ... RE. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in ... including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet. 2013 Jun;21( ...
- ... S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46, ... J, Visootsak J, Hansen R, Hagerman R. A new look at XXYY syndrome: medical and psychological features. ...
- ... Anneren G. Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet. ... currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. ...
- ... Thomas GH, Batista DA. 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J ...
- ... A, Sakata S, Ohno K, Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe ...
- ... de Vries BB, Ceulemans B, Kooy RF. Fourteen new cases contribute to the characterization of the 7q11. ...
- ... Y, Luo Y. Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Mol ...
- ... M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion ...