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Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCTGERTH, C; ZAWADZKI, R. J; WERNER, J. S et al.Eye (London. 1987). 2009, Vol 23, Num 2, pp 480-483, issn 0950-222X, 4 p.Article

Ectopia lentis phenotypes and the FBN1 geneADES, Lesley C; HOLMAN, Katherine J; BRETT, Maggie S et al.American journal of medical genetics. 2004, Vol 124A, Num 3, pp 284-289, issn 0148-7299, 6 p.Article

c-Src inactivation reduces renal epithelial cell-matrix adhesion, proliferation, and cyst formationELLIOTT, Justine; ZHELEZNOVA, Nadezhda N; WILSON, Patricia D et al.American journal of physiology. Cell physiology. 2011, Vol 70, Num 2, issn 0363-6143, C522-C529Article

White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findingsSUNDAL, C; EKHOLM, S; ANDERSEN, O et al.Acta neurologica scandinavica. 2010, Vol 121, Num 5, pp 328-337, issn 0001-6314, 10 p.Article

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A novel MSX1 mutation in hypodontiaDE MUYNCK, S; SCHOLLEN, E; MATTHIJS, G et al.American journal of medical genetics. 2004, Vol 128A, Num 4, pp 401-403, issn 0148-7299, 3 p.Article

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Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 regionAL-ALI, Faiza Mohamed Saleh; RATNAMALA, Uppala; NATH, Swapan K et al.Experimental dermatology. 2010, Vol 19, Num 9, pp 851-853, issn 0906-6705, 3 p.Article

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Paucity of genotype—phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)HEIMALL, Jennifer; DAVIS, Joie; SHAW, Pamela A et al.Clinical immunology (Orlando, Fla. Print). 2011, Vol 139, Num 1, pp 75-84, issn 1521-6616, 10 p.Article

High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern NewfoundlandMAHONEY, Krista; BUCKLEY, David; ALAM, Muhammed et al.Epilepsy research. 2012, Vol 98, Num 2-3, pp 140-147, issn 0920-1211, 8 p.Article

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