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المؤلفون: Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri‐Fam, Janelle M. Ryan, Alejandra P. Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M. Thompson, Andrew J. Kueh, Peter Stanton, Tim Thomas, Andrew H. Sinclair, Vincent R. Harley
المصدر: Clinical geneticsREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Sarah A. Sandaradura, Christopher Barnett, Jason Pinner, Sebastian Lunke, Lyndon Gallacher, Kirsten Boggs, Amanda Springer, Melissa Martyn, Chirag Patel, Sarah Schenscher, Lindsay F. Fowles, Fiona Lynch, Samantha Ayres, Michelle G. de Silva, Anne Baxendale, Emma I. Krzesinski, Gemma R Brett, Sarah L King-Smith, Anand Vasudevan, Meredith Wilson, Zornitza Stark
المساهمون: Brett, Gemma R., Martyn, Melissa, Lynch, Fiona, de Silva, Michelle G., King-Smith, Sarah, Stark, Zornitza
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
مصطلحات موضوعية: Counseling, Parents, medicine.medical_specialty, media_common.quotation_subject, Emotions, genomic testing, Informed consent, Surveys and Questionnaires, Medicine, Humans, Genetic Testing, Empowerment, Child, Genetics (clinical), media_common, Genetic testing, Response rate (survey), medicine.diagnostic_test, business.industry, Infant, Regret, parent experiences, neonatal and pediatric intensive care, decision regret, Decision Regret Scale, personal utility, Scale (social sciences), Family medicine, Personalized medicine, business
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المؤلفون: Anna E. Richards, Emma I. Krzesinski, Stefanie Eggers, Lauren Hunt, Michelle G. de Silva, Matthew S. Edwards, Megan Higgins, Lyndon Gallacher, Stephanie Best, Kirsten Boggs, Lindsay F. Fowles, Sarah Lang, Alan Ma, Edwin P. Kirk, Zornitza Stark, George Elakis, Natasha J Brown, Lauren S. Akesson, Michael Buckley, Alison Yeung, Sebastian Lunke, Michael C Fahey, Susan M. White, Christopher M. Richmond, Amanda Springer, David Mowat, Alessandra Bray, Janine Smith, Sarah Borrie, Luregn J. Schlapbach, Jessica R. Riseley, Ying Zhu, Jonathan Rodgers, Dean Phelan, Rani Sachdev, Chirag Patel, Sarah A. Sandaradura, Sarah R. B. King, Christopher P. Barnett, John Christodoulou, Maelle Le Moing, Lesley C. Adès, Gemma R Brett, Katherine B. Howell, Meredith Wilson, Matthew F. Hunter, Anne Baxendale, Natalie B Tan, Belinda Chong, Anand Vasudevan, Tiong Yang Tan, Kristi J. Jones, Christiane Theda, Michael C.J. Quinn, Andrew Fennell, Jason Pinner, Smitha Kumble, Melissa Martyn, Tony Roscioli, Cheng Yee Chan, Simon Sadedin, Corrina Cliffe, David J. Amor, Suzanna L. Temple, Samantha Ayres, Martin B. Delatycki
المساهمون: Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, King, Sarah, Stark, Zornitza
مصطلحات موضوعية: Pediatric intensive care unit, medicine.medical_specialty, Pediatrics, Referral, business.industry, Critically ill, critically ill, Australia, Obstetrics and Gynecology, General Medicine, infants and children, Confidence interval, ultrarapid genomic testing, neonatal and pediatric patients, medicine, Medical genetics, Personalized medicine, Medical diagnosis, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a33ca900ac169cc9fafbd67055827d1
https://hdl.handle.net/11541.2/145752 -
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المؤلفون: Elizabeth Thompson, Remko Hersmus, Antony R Lafferty, Nanis S Marzuki, Thomas Ohnesorg, Sultana M.H. Faradz, Jocelyn van den Bergen, Andrew H. Sinclair, Nurin Aisyiyah Listyasari, Katie L. Ayers, Anne Baxendale, Leendert H. J. Looijenga, Stefan Riedl, Ardy Santosa, Garry L. Warne, Charles F. Verge, Gorjana Robevska, Stefanie Eggers, Chloe Hanna
المساهمون: Pathology
المصدر: Human Mutation
Human Mutation, 39(1), 124-139. Wiley-Liss Inc.مصطلحات موضوعية: Male, Models, Anatomic, 0301 basic medicine, endocrine system, Genotype, disorders of sex development, Protein Conformation, Protein domain, NR5A1, Biology, Steroidogenic Factor 1, medicine.disease_cause, Müllerian mimicry, 03 medical and health sciences, Protein Domains, 5. Gender equality, variable expressivity, Genetics, medicine, Humans, Amino Acid Sequence, Disorders of sex development, Alleles, Genetic Association Studies, Research Articles, Genetics (clinical), Mutation, Disorder of Sex Development, 46,XY, NR5A1 gene, Genetic Variation, Oligogenic Inheritance, Sequence Analysis, DNA, genotype–phenotype correlation, oligogenic, medicine.disease, Phenotype, 030104 developmental biology, Female, RNA Splice Sites, Function (biology), Research Article
وصف الملف: application/pdf
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المؤلفون: Kirsty Stallard, Kate E. Riley, Electra Pontikinas, Anne Baxendale, Hayley Salvemini, Lara Fitzgerald, Eric Haan, Sarah Borrie
المصدر: Journal of Genetic Counseling. 26:159-172
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genetic counseling, Decision Making, education, Mothers, Genetic Counseling, Paternity, Prenatal diagnosis, Audit, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, Nursing, Pregnancy, South Australia, medicine, Humans, Genetics (clinical), Social work, business.industry, Public health, Public sector, Middle Aged, medicine.disease, Counselors, Family medicine, Medical genetics, Female, business
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المؤلفون: Martine Raynaud, Raman Kumar, Hilde Van Esch, C Jensen, Bartlomiej Budny, Magdalena Badura-Stronka, Michael I. Love, Guy Froyen, Lachlan A. Jolly, Bregje W.M. van Bon, Jill A. Rosenfeld, Lina Basel-Vanagaite, M Bienek, Alison Gardner, Jillian Nicholl, Sau Wai Cheung, Elizabeth Thompson, Jozef Gecz, Anne Baxendale, Anna Latos-Bielenska, C Tan, Joshua A. Woenig, Stefan A. Haas, Mark A. Corbett, Marzena Wisniewska, Maureen Holvoet, Evelyn Douglas, Eric Haan, Michael Field, Kathryn Friend, Melanie Leffler, Jacqueline R. Batanian, Hao Hu, Pawel Stankiewicz, Reinhard Ullmann, Vera M. Kalscheuer
المصدر: Human Molecular Genetics, 24, 7171-81
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Geneticsمصطلحات موضوعية: Male, DNA Copy Number Variations, Cohesin complex, Gene regulatory network, Cell Cycle Proteins, Biology, Genome, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Molecular Biology, Gene, Genetics (clinical), X chromosome, Problem Behavior, Chromosomes, Human, X, Reverse Transcriptase Polymerase Chain Reaction, Antigens, Nuclear, General Medicine, medicine.disease, Genetic architecture, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: Print-Electronic; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92533c9f4f7cb38d9246b54058c997f2
https://doi.org/10.1093/hmg/ddv414 -
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المؤلفون: Jonathan Rodgers, Alan Ma, Michael C Fahey, Lauren Hunt, Melissa Martyn, Tony Roscioli, Dean Phelan, Chirag Patel, Michael C.J. Quinn, Sarah R. B. King, Lindsay F. Fowles, Christopher P. Barnett, Anne Baxendale, Cheng Yee Chan, Christiane Theda, Lauren S. Akesson, Luregn J. Schlapbach, Jessica R. Riseley, Anna E. Richards, Simon Sadedin, Matthew S. Edwards, Edwin P. Kirk, Ying Zhu, Corrina Cliffe, Matthew F. Hunter, Tiong Yang Tan, Stephanie Best, Kirsten Boggs, Emma I. Krzesinski, Rani Sachdev, Megan Higgins, David J. Amor, George Elakis, Sarah A. Sandaradura, Stefanie Eggers, Michael Buckley, Susan M. White, Samantha Ayres, Suzanna L. Temple, Maelle Le Moing, Janine Smith, Martin B. Delatycki, Natalie B Tan, John Christodoulou, Jason Pinner, Alison Yeung, Amanda Springer, David Mowat, Belinda Chong, Anand Vasudevan, Sarah Borrie, Smitha Kumble, Lesley C. Adès, Andrew Fennell, Kristi J. Jones, Gemma R Brett, Zornitza Stark, Meredith Wilson, Katherine B. Howell, Natasha J Brown, Sarah Lang, Christopher M. Richmond, Michelle G. de Silva, Sebastian Lunke, Alessandra Bray, Lyndon Gallacher
المساهمون: Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P, King, Sarah, Stark, Zornitza, Australian Genomics Health Alliance Acute Care Flagship
المصدر: JAMA. 323:2503
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Palliative care, National Health Programs, pediatric critical care, Critical Illness, 01 natural sciences, rapid genomic testing, 03 medical and health sciences, 0302 clinical medicine, Intensive care, Exome Sequencing, Health care, Humans, Medicine, Genetic Testing, Prospective Studies, 030212 general & internal medicine, 0101 mathematics, Child, Prospective cohort study, Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, 010102 general mathematics, Australia, Genetic Diseases, Inborn, Infant, Newborn, Infant, General Medicine, Clinical research, Child, Preschool, Emergency medicine, Feasibility Studies, Female, Australian public health care system, Personalized medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9387a6ecd4f32a6f7da6e8a231e7a617
https://doi.org/10.1001/jama.2020.7671 -
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المؤلفون: K Gibson, Jane Halliday, David J. Amor, S White, Susan M. White, Agnes Bankier, Martin B. Delatycki, Alexa Kidd, Eric Haan, Anne M. Turner, Michael C Fahey, Elizabeth Thompson, Anne Baxendale, Ravi Savarirayan
المصدر: American Journal of Medical Genetics. :118-127
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Birth weight, Kabuki, Behavioral Symptoms, Growth, Overweight, Intellectual Disability, Intellectual disability, medicine, Birth Weight, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Australia, Infant, Syndrome, medicine.disease, Obesity, Natural history, Phenotype, Child, Preschool, Face, Failure to thrive, Female, medicine.symptom, business, Head, Kabuki syndrome, New Zealand
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7061493df59993e2a7c6e6b498e9c887
https://doi.org/10.1002/ajmg.a.20674
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