Effects of stratification in the analysis of affected-sib-pair data : Benefits and costsLEAL, S. M; OTT, J.American journal of human genetics. 2000, Vol 66, Num 2, pp 567-575, issn 0002-9297Article

A likelihood approach to calculating risk support intervalsLEAL, S. M; OTT, J.American journal of human genetics. 1994, Vol 54, Num 5, pp 913-917, issn 0002-9297Article

Mapping of a gene for severe pediatric Gastroesophageal reflux to chromosome 13q14FEN ZE HU; PRESTON, R. A; ALLEN, G et al.JAMA, the journal of the American Medical Association. 2000, Vol 284, Num 3, pp 325-334, issn 0098-7484Article

Hereditäre Schwerhörigkeit in der Türkei : Erste Ergebnisse = Initial experience with the identification of families with hereditary hearing loss in TurkeyAPAYDIN, F; PFISTER, M; IBER, M et al.HNO. Hals-, Nasen-, Ohrenärzte. 1998, Vol 46, Num 9, pp 809-814, issn 0017-6192Article

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeNAEEM, M; WAJID, M; LEE, K et al.Journal of medical genetics. 2006, Vol 43, Num 3, pp 274-279, issn 0022-2593, 6 p.Article

Ectodermal dysplasia of hair and nail type : mapping of a novel locus to chromosome 17p12-q21.2NAEEM, M; JELANI, M; AHMAD, W et al.British journal of dermatology (1951). 2006, Vol 155, Num 6, pp 1184-1190, issn 0007-0963, 7 p.Article

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31WALI, A; JOHN, P; GUL, A et al.Clinical genetics. 2006, Vol 70, Num 3, pp 233-239, issn 0009-9163, 7 p.Article

Homozygosity mapping of the achromatopsia locus in the PingelapeseWINICK, J. D; BLUNDELL, M. L; GALKE, B. L et al.American journal of human genetics. 1999, Vol 64, Num 6, pp 1679-1685, issn 0002-9297Article

Amyloidosis presenting as a penile massLEAL, S. M; NOVSAM, N; ZACKS, S. I et al.The Journal of urology. 1988, Vol 140, Num 4, pp 830-831, issn 0022-5347, 2 p.Article

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairmentLEE, K; KHAN, S; ISLAM, A et al.Clinical genetics. 2012, Vol 82, Num 1, pp 56-63, issn 0009-9163, 8 p.Article

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontiaMENDOZA-FANDINO, G. A; GEE, J. M; PATEL, P. I et al.Clinical genetics. 2011, Vol 80, Num 3, pp 265-272, issn 0009-9163, 8 p.Article

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3RAFIQ, M. A; ANSAR, M; PHAM, T et al.Clinical genetics. 2004, Vol 66, Num 1, pp 73-78, issn 0009-9163, 6 p.Article

The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasisCHUNG, W. K; LUKE, A; ANDREU, A. L et al.International journal of obesity. Supplement. 1999, Vol 23, Num 6, pp S49-S50, issn 1359-6373Conference Paper

Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13?WILHELMSEN, K; MIREL, D; MAYEUX, R et al.Annals of neurology. 1997, Vol 41, Num 6, pp 813-817, issn 0364-5134Article

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23ALI, G; SANTOS, R. L. P; JOHN, P et al.Clinical genetics. 2006, Vol 69, Num 5, pp 429-433, issn 0009-9163, 5 p.Article

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)FERGUSON, P. J; CHEN, S; TAYEH, M. K et al.Journal of medical genetics. 2005, Vol 42, Num 7, pp 551-557, issn 0022-2593, 7 p.Article

A second kindred linked to DFNA20 (17q25.3) reduces the genetic intervalDEWAN, A. T; PARRADO, A. R; LEAL, S. M et al.Clinical genetics. 2003, Vol 63, Num 1, pp 39-45, issn 0009-9163, 7 p.Article

Mutations in the _γ-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)ZHU, M; YANG, T; WET, S et al.American journal of human genetics. 2003, Vol 73, Num 5, pp 1082-1091, issn 0002-9297, 10 p.Article

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindredHÄFNER, F. M; SALAM, A. A; LINDER, T. E et al.American journal of human genetics. 2000, Vol 66, Num 4, pp 1437-1442, issn 0002-9297Article

Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasisCHUNG, W. K; LUKE, A; LEDUC, C et al.Diabetes (New York, NY). 1999, Vol 48, Num 9, pp 1890-1895, issn 0012-1797Article

Abnormalities of diaphragmatic muscle in neonates with ventilated lungsKNISELY, A. S; LEAL, S. M; SINGER, D. B et al.The Journal of pediatrics. 1988, Vol 113, Num 6, pp 1074-1077, issn 0022-3476Article

Contrast echocardiography during cardiac catheterization in patients with congenital heart diseasesANDRADE, J. L; BORGES LEAL, S. M; FILHO, O. C et al.Catheterization and cardiovascular diagnosis. 1993, Vol 29, Num 2, pp 117-121, issn 0098-6569Article