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1دورية أكاديمية
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
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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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3
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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4
المؤلفون: Alan Ma, John R. Grigg, David J. Amor, Benjamin M. Nash, Karen Wong, Sarah E Leighton, Maree Flaherty, Gladys Ho, Marcel E. Dinger, Frank Martin, Natasha J Brown, James A. Smith, Gemma Jenkins, Himanshu Goel, André E. Minoche, Thet Gayagay, Emma L. Hackett, Mark J. Cowley, Katherine Holman, Katrina Slater, Tiffany Lai, Anson Cheng, Bruce Bennetts, Robyn V. Jamieson, Elizabeth Farnsworth
المصدر: Human mutationREFERENCES. 42(9)
مصطلحات موضوعية: Genetics, 0303 health sciences, DNA Copy Number Variations, 030305 genetics & heredity, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Genomics, Biology, medicine.disease, DNA sequencing, Cataract, 03 medical and health sciences, Cataracts, Exome Sequencing, Congenital cataracts, medicine, Humans, Exome, Copy-number variation, Indel, Genetics (clinical), Exome sequencing, 030304 developmental biology
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5
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