المؤلفون: Bruce Bennetts, Gladys Ho, Sarah Shin, Pak Leng Cheong, Tiffany Wotton, Enzo Ranieri, Shelley Pirreca

المصدر: Children, Vol 11, Iss 11, p 1287 (2024)

مصطلحات موضوعية: NBS, repeat testing, diagnostic, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/11/1287; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/c62d59b9475d466eaacce88b9e6ea0dd

المؤلفون: Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Genetics, Paediatrics, Interstitial lung disease, Paediatric lung disease, Rare lung diseases, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c0f61a3c2108429b8380ad8ac0d1db27

المؤلفون: Ashley Hertzog, Adviye Ayper Tolun, Carolyn Ellaway, Wendy Gold, Gladys Ho

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100220- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002200; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c21470575c1949d7a3d641761c40192f

المؤلفون: Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Bruce Bennetts, Gladys Ho, Kaustuv Bhattacharya

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: inborn error of metabolism, intronic variant, non-coding variant, genotype-phenotype correlation, promoter variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1031495/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/a3aeb52c55d6400097248becbaff14a6

المؤلفون: Hope A. Tanudisastro, Katherine Holman, Gladys Ho, Elizabeth Farnsworth, Katrina Fisk, Thet Gayagay, Emma Hackett, Gemma Jenkins, Rahul Krishnaraj, Tiffany Lai, Karen Wong, Chirag Patel, Amali Mallawaarachchi, Andrew J. Mallett, Bruce Bennetts, Stephen I. Alexander, Hugh J. McCarthy

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

المؤلفون: John Christodoulou, Claire Wakefield, Adam Jaffe, David S Armstrong, Hiran Selvadurai, Andre Schultz, Tim McDonald, David Mowat, Joanne Harrison, BRUCE BENNETTS, Nitin Kapur, Andrew Tai, Gladys Ho, Lauren Kelada, Nada Vidic, Kirsten Boggs, Suzanna Lindsey-Temple

المصدر: BMJ Open Respiratory Research, Vol 9, Iss 1 (2022)

مصطلحات موضوعية: Medicine, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: https://bmjopenrespres.bmj.com/content/9/1/e001139.full; https://doaj.org/toc/2052-4439

URL الوصول: https://doaj.org/article/cb35d7ea29d549f9a4b32b10a0251a3b

المؤلفون: Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team The Mackenzie’s Mission Study Team

المصدر: Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1781

مصطلحات موضوعية: reproductive genetic carrier screening, implementation science, bioethics, health economics, psychosocial outcomes

وصف الملف: application/pdf

Relation: Omics/Informatics; https://dx.doi.org/10.3390/jpm12111781

الاتاحة: https://doi.org/10.3390/jpm12111781

المؤلفون: Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 7; Pages: 3905

مصطلحات موضوعية: inherited retinal dystrophy, whole genome sequencing, gene panels, RNA analysis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23073905

الاتاحة: https://doi.org/10.3390/ijms23073905

المؤلفون: Andrew J. Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman, Cas Simons

المصدر: Kidney Medicine, Vol 1, Iss 5, Pp 315-318 (2019)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590059519300792; https://doaj.org/toc/2590-0595

URL الوصول: https://doaj.org/article/9721b490c0934ac3b2fb2b35d8b71f77

المؤلفون: Fred K Chen, Alex W Hewitt, Alan Ma, John Grigg, Keith R Martin, Robyn Jamieson, Heather G Mack, Fleur O’Hare, David Mackey, John De Roach, Alexis Ceecee Britten-Jones, Myra McGuinness, Nicole Tindill, Lauren Ayton, Anai Gonzalez Cordero, Thomas L Edwards, Gladys Ho, Michael Hogden, Anthony Kwan, Tina Lamey, Terri McLaren, Benjamin Nash, Jon Ruddle, Matthew Simunovic, Ingrid Sinnerbrink, Deepa Ajay Taranath, Jen Thompson, Jaclyn White

المصدر: BMJ Open, Vol 11, Iss 6 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/11/6/e048361.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/748c300353da46cfad1dfa7d7e12385a

المؤلفون: Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 2; Pages: 25

مصطلحات موضوعية: intermediate MSUD, VOUS, DBT gene, leucine decarboxylation studies, validation of pathogenicity

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns7020025

الاتاحة: https://doi.org/10.3390/ijns7020025

المؤلفون: Ashley Hertzog, Arthavan Selvanathan, Beena Devanapalli, Gladys Ho, Kaustuv Bhattacharya, Adviye Ayper Tolun

المصدر: Translational Pediatrics. 11:1704-1716

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4892d5878f93d4e388957b06c8dee89d
https://doi.org/10.21037/tp-22-105

المؤلفون: Joëlle Rudinger-Thirion, Denise L. Chan, Kavitha Kothur, Shekeeb S. Mohammad, Lisa G. Riley, Gladys Ho, Magali Frugier

المصدر: Brain and Development. 44:142-147

مصطلحات موضوعية: Cerebral atrophy, business.industry, General Medicine, Carbamazepine, Bioinformatics, Compound heterozygosity, medicine.disease, Epilepsy, Developmental Neuroscience, Dyskinesia, Pediatrics, Perinatology and Child Health, medicine, TRNA aminoacylation, Cerebellar atrophy, Neurology (clinical), medicine.symptom, business, Developmental regression, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3195cbae06cfab80b97a0910e352be82
https://doi.org/10.1016/j.braindev.2021.10.009

المؤلفون: Emily A. Innes, Robert Goetti, Neil Mahant, Gladys Ho, Laura Williams, Deepak Gill, Russell C. Dale, Shekeeb S. Mohammad

المصدر: Parkinsonism & Related Disorders. 99:76-78

مصطلحات موضوعية: Phenotype, Neurology, Spastic Paraplegia, Hereditary, Mutation, Tremor, Humans, Proteins, Neurology (clinical), Geriatrics and Gerontology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f189548602ea1a84fecca24f72366c
https://doi.org/10.1016/j.parkreldis.2022.05.011

المؤلفون: Amanda B. Spurdle, Rodney J. Scott, Catriona M. McNeil, Emilia Ip, Charbel Sandroussi, Annabel Goodwin, Tahlia Scheinberg, Christina Brown, Pascale Guitera, Gladys Ho, Emma Tudini, Peter Grimison

المصدر: Journal of Medical Genetics. 59:912-915

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Chemotherapy, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Cancer, medicine.disease, hemic and lymphatic diseases, Primary Ovarian Failure, Genetics, medicine, Adenocarcinoma, Gastrointestinal cancer, Family history, Ovarian cancer, business, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d6eaa18775f5b7b4cb7e0b385313e50
https://doi.org/10.1136/jmedgenet-2021-108072

المؤلفون: Bruce Bennetts, David Francis, David J. Amor, Alison D Archibald, Rob Thomas, Gladys Ho, Essra Bartlett, Martin B. Delatycki, Gemma O'Farrell, Gabrielle Chandler, Emma Baker, Alison Pandelache, Katrina Fisk, Ling Ling, David E. Godler, Lisa Ward

المصدر: American Journal of Medical Genetics Part A. 188:304-309

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Fragile x, Daughter, Ataxia, Offspring, media_common.quotation_subject, Normal function, Biology, medicine.disease, FMR1, nervous system diseases, Andrology, Fragile X syndrome, Genetics, medicine, medicine.symptom, Allele, Genetics (clinical), media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b73de4df537d7d524617fc5d9db6baa
https://doi.org/10.1002/ajmg.a.62500

المؤلفون: Tiffany Lai, Hope A Tanudisastro, Katherine Holman, Katrina Fisk, Bruce Bennetts, Andrew Mallett, Emma L. Hackett, Stephen I. Alexander, Karen Wong, Gladys Ho, Elizabeth Farnsworth, Hugh J. McCarthy, Amali Mallawaarachchi, Gemma Jenkins, Thet Gayagay, Chirag Patel, Rahul Krishnaraj

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
NPJ Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Genetic testing, Referral, Genetic counseling, 030232 urology & nephrology, MEDLINE, QH426-470, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Genetics, Molecular Biology, Genetics (clinical), Kidney diseases, medicine.diagnostic_test, business.industry, Disease genetics, medicine.disease, Test (assessment), 030104 developmental biology, Family planning, Family medicine, Medicine, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d51f60b0671870f2fc386074b16f55
https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8

المؤلفون: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen

المساهمون: Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Schreiber, Andreas W, James, U, Shariant Consortium

المصدر: Am J Hum Genet

مصطلحات موضوعية: genomic variant, variant interpretations, Databases, Genetic, Technology Review, Genetics, Australia, Humans, Genetic Variation, Genetic Testing, Laboratories, Genetics (clinical), Australian laboratories

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611

المؤلفون: Paul Snelling, Bruce Bennetts, Andrew Mallett, Katherine Holman, Leo Francis, Rebecca Hudson, Chirag Patel, Stacey O'Shea, Cas Simons, Joanna Crawford, Gladys Ho, Carmel M. Hawley

المصدر: American Journal of Kidney Diseases. 76:282-287

مصطلحات موضوعية: Mutation, Kidney, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic heterogeneity, 030232 urology & nephrology, medicine.disease_cause, medicine.disease, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine.anatomical_structure, Nephrology, Nephronophthisis, Biopsy, Medicine, 030212 general & internal medicine, business, Kidney disease, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf3c05a71128a173ce61bd0300189448
https://doi.org/10.1053/j.ajkd.2019.08.031