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AK Ryan

Research Profile

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Publications

TOP 3
Judith A Goodship; J O'Sullivan; P F Chinnery; AK Ryan; N Ziakas; C M Hall; M Clarke
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome.
AK Ryan; K Bartlett; P Clayton; S Eaton; L Mills; Dian Donnai; Robin M Winter; John Burn
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
AK Ryan; Judith A Goodship; David I Wilson; N Philip; A Levy; Heide Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; Marguerite Prieur; A Aurias; F L Raymond; Jill Clayton-Smith; E Hatchwell; Carole M E McKeown; F A Beemer; B Dallapiccola; G Novelli; Jane A Hurst; Jaakko Ignatius; A J Green; Robin M Winter; Louise A Brueton; K Brøndum-Nielsen; Peter J Scambler
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

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All Publications

2002: Judith A Goodship; J O'Sullivan; P F Chinnery; AK Ryan; N Ziakas; C M Hall; M Clarke
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome.
Journal of medical genetics 2002;39(3):221-3.
1998: AK Ryan; K Bartlett; P Clayton; S Eaton; L Mills; Dian Donnai; Robin M Winter; John Burn
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Journal of medical genetics 1998;35(7):558-65.
1997: AK Ryan; Judith A Goodship; David I Wilson; N Philip; A Levy; Heide Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; Marguerite Prieur; A Aurias; F L Raymond; Jill Clayton-Smith; E Hatchwell; Carole M E McKeown; F A Beemer; B Dallapiccola; G Novelli; Jane A Hurst; Jaakko Ignatius; A J Green; Robin M Winter; Louise A Brueton; K Brøndum-Nielsen; Peter J Scambler
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Journal of medical genetics 1997;34(10):798-804.

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