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1دورية أكاديمية
المؤلفون: Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard deJong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk
المصدر: JIMD Reports, Vol 63, Iss 4, Pp 271-275 (2022)
مصطلحات موضوعية: inborn errors of metabolism, ornithine transcarbamylase deficiency, promoter variants, urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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المؤلفون: Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard de Jong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk
المصدر: JIMD Reports. 63:271-275
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)
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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
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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 -
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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 Medicineمصطلحات 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
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المؤلفون: James E. Elder, David J. Amor, Annabelle Enriquez, Tiffany Lai, Saira Yousoof, Katherine Holman, Thet Gayagay, Chloe A Stutterd, Benjamin M. Nash, Emma L. Hackett, Gemma Jenkins, Frank Martin, Mark J. Cowley, Marcel E. Dinger, Katrina Fisk, Karen Wong, Meredith Wilson, Robyn V. Jamieson, André E. Minoche, Alan Ma, Anson Cheng, Benjamin Kamien, Bruce Bennetts, Tanya Karaconji, Elizabeth Farnsworth, Gladys Ho, Maree Flaherty, John R. Grigg, John Nelson
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Biology, medicine.disease_cause, DNA sequencing, Article, exome and genome sequencing, 03 medical and health sciences, ADAMTS Proteins, Anterior Eye Segment, medicine, Humans, Eye Abnormalities, Gene, Genetics (clinical), Exome sequencing, Genetic testing, Genetics, Mutation, medicine.diagnostic_test, Genetic heterogeneity, Chromosome, Eye Diseases, Hereditary, Forkhead Transcription Factors, eye, Pedigree, ophthalmology, 030104 developmental biology, genomic medicine, Cytochrome P-450 CYP1B1, Human genome, ocular anterior segment dysgenesis