Výsledky vyhledávání - Ho, Gladys

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH(4)) Responsiveness Autor Ho, Gladys, Alexander, Ian, Bhattacharya, Kaustuv, Dennison, Barbara, Ellaway, Carolyn, Thompson, Sue, Wilcken, Bridget, Christodoulou, John

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There is variability in the attainment of developmental milestones in the CDKL5 disorder Autor Fehr, Stephanie, Leonard, Helen, Ho, Gladys, Williams, Simon, de Klerk, Nick, Forbes, David, Christodoulou, John, Downs, Jenny

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CFHR5 Nephropathy in a Greek-Cypriot Australian Family: Ancestry-Informed Precision Medicine Autor Ng, Monica S.Y., McClymont, Kelly, McCallum, Naomi, Dua, Rahul, Holman, Katherine, Bennetts, Bruce, Ho, Gladys, Patel, Chirag, Mallett, Andrew J.

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Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation Autor Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, Simons, Cas

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype Autor Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning Autor Sajeev, Mona, Chin, Sharon, Ho, Gladys, Bennetts, Bruce, Sankaran, Bindu Parayil, Gutierrez, Bea, Devanapalli, Beena, Tolun, Adviye Ayper, Wiley, Veronica, Fletcher, Janice, Fuller, Maria, Balasubramaniam, Shanti

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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy Autor Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing Autor Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.

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Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life Autor Kelada, Lauren, Wakefield, Claire, Vidic, Nada, Armstrong, David S, Bennetts, Bruce, Boggs, Kirsten, Christodoulou, John, Harrison, Joanne, Ho, Gladys, Kapur, Nitin, Lindsey-Temple, Suzanna, McDonald, Tim, Mowat, David, Schultz, André, Selvadurai, Hiran, Tai, Andrew, Jaffe, Adam

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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms Autor Forbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas, Little, Melissa H.

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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families Autor Tanudisastro, Hope A., Holman, Katherine, Ho, Gladys, Farnsworth, Elizabeth, Fisk, Katrina, Gayagay, Thet, Hackett, Emma, Jenkins, Gemma, Krishnaraj, Rahul, Lai, Tiffany, Wong, Karen, Patel, Chirag, Mallawaarachchi, Amali, Mallett, Andrew J., Bennetts, Bruce, Alexander, Stephen I., McCarthy, Hugh J.

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies Autor Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.

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Mutations in the exocyst component EXOC2 cause severe defects in human brain development Autor Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John

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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder Autor Beaman, Glenda M., Lopes, Filipa M., Hofmann, Aybike, Roesch, Wolfgang, Promm, Martin, Bijlsma, Emilia K., Patel, Chirag, Akinci, Aykut, Burgu, Berk, Knijnenburg, Jeroen, Ho, Gladys, Aufschlaeger, Christina, Dathe, Sylvia, Voelckel, Marie Antoinette, Cohen, Monika, Yue, Wyatt W., Stuart, Helen M., Mckenzie, Edward A., Elvin, Mark, Roberts, Neil A., Woolf, Adrian S., Newman, William G.

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders Autor Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

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