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1
المؤلفون: Cameron Snell, Sam McManus, Kelly Robinson, Wendy Lewis, Samantha Arandelovic, Rohan Lourie, James Harraway
المصدر: Pathology. 54:810-814
مصطلحات موضوعية: ErbB Receptors, Lung Neoplasms, Carcinoma, Non-Small-Cell Lung, DNA Mutational Analysis, Mutation, Humans, Pathology and Forensic Medicine
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2
المؤلفون: Erin Anderson, Melanie Aldridge, Ross Turner, James Harraway, Sam McManus, Anna Stewart, Peter Borzi, Peter Trnka, John Burke, David Coman
المصدر: Pediatric Nephrology. 37:2369-2374
مصطلحات موضوعية: Genes, Wilms Tumor, Glomerulonephritis, Membranoproliferative, Nephrology, Mutation, Pediatrics, Perinatology and Child Health, Humans, Denys-Drash Syndrome, Gonadal Dysgenesis, WT1 Proteins, Wilms Tumor, Frasier Syndrome, Kidney Neoplasms
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3
المؤلفون: Priya Susan Roy, Lawrence Hui, Mark McKinley, Adapalayam Nandini, Sam McManus, Hnin Aung, Ghusoon AbdulRasool, Chiyan Lau
المصدر: Pathology. 55:S16-S17
مصطلحات موضوعية: Pathology and Forensic Medicine
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4
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 -
5
المؤلفون: Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Admire Matsika, Sam McManus, Hamish S. Scott, Peer Arts, Thuong Ha, Christopher P. Barnett, Jonathan Rodgers, Paweł Stankiewicz
المساهمون: Bolukbasi, Esra Yildiz, Karolak, Justyna A, Szafranski, Przemyslaw, Gambin, Tomasz, Matsika, Admire, McManus, Sam, Scott, Hamish S, Arts, Peer, Ha, Thuong, Barnett, Christopher P, Rodgers, Jonathan, Stankiewicz, Pawel
المصدر: European journal of human genetics : EJHG. 30(10)
مصطلحات موضوعية: FOXF1 variant, Nucleotides, genome sequencing analyses, Infant, Newborn, ACDMPV, Forkhead Transcription Factors, Persistent Fetal Circulation Syndrome, Pulmonary Alveoli, Genetics, Humans, Female, Frameshift Mutation, Genetics (clinical), Sequence Deletion
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6
المؤلفون: Tony Huynh, Sam McManus, James Harraway, Ivan McGown, Mark Williams
المصدر: International Journal of Pediatric Endocrinology
مصطلحات موضوعية: Genetics, Sanger sequencing, Candidate gene, Massive parallel sequencing, business.industry, Genomics, DNA sequencing, symbols.namesake, Poster Presentation, symbols, Medicine, business, Genotyping, Illumina dye sequencing, Exome sequencing