Rezultati - Delatycki, Martin B

Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware od Delatycki, Martin B.

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Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia od Delatycki, Martin B, Leventer, Richard J

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Clinical Features of Friedreich Ataxia od Delatycki, Martin B, Corben, Louise A

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Expanded reproductive carrier screening—how can we do the most good and cause the least harm? od Delatycki, Martin B., Laing, Nigel, Kirk, Edwin

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Refusing to provide a prenatal test: can it ever be ethical? od Duncan, Rony E, Foddy, Bennett, Delatycki, Martin B

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Tay-Sachs disease: current perspectives from Australia od Lew, Raelia M, Burnett, Leslie, Proos, Anné L, Delatycki, Martin B

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Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia od Peverill, Roger E., Donelan, Lesley, Corben, Louise A., Delatycki, Martin B.

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Carrier screening for Beta-thalassaemia: a review of international practice od Cousens, Nicole E, Gaff, Clara L, Metcalfe, Sylvia A, Delatycki, Martin B

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“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes od Cousens, Nicole E., Gaff, Clara L., Metcalfe, Sylvia A., Delatycki, Martin B.

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Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues od Bowman‐Smart, Hilary, Savulescu, Julian, Gyngell, Christopher, Mand, Cara, Delatycki, Martin B.

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Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening od Forbes, Thomas A, Wallace, Jane, Kumble, Smitha, Delatycki, Martin B, Stark, Zornitza

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Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints od Tassicker, Ros, Savulescu, Julian, Skene, Loane, Marshall, Pam, Fitzgerald, Lara, Delatycki, Martin B

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Consensus clinical management guidelines for Friedreich ataxia od Corben, Louise A, Lynch, David, Pandolfo, Massimo, Schulz, Jörg B, Delatycki, Martin B

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Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening od Ioannou, Liane, Massie, John, Lewis, Sharon, Collins, Veronica, McClaren, Belinda, Delatycki, Martin B

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Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video od Tai, Geneieve, Corben, Louise A., Woodcock, Ian R., Yiu, Eppie M., Delatycki, Martin B.

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Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity od Peverill, Roger E., Romanelli, Giovanni, Donelan, Lesley, Hassam, Rhonda, Corben, Louise A., Delatycki, Martin B.

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Non-invasive prenatal testing for ‘non-medical’ traits: ensuring consistency in ethical decision-making od Bowman-Smart, Hilary, Gyngell, Christopher, Mand, Cara, Amor, David J., Delatycki, Martin B., Savulescu, Julian

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Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians od Coman, David J., Hayes, Ian M., Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed, Delatycki, Martin B.

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Recent advances in the detection of repeat expansions with short-read next-generation sequencing od Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J

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Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data od Tankard, Rick M., Bennett, Mark F., Degorski, Peter, Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie

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