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1دورية أكاديمية
المؤلفون: Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie
المصدر: PeerJ, Vol 2, p e354 (2014)
مصطلحات موضوعية: Array CGH, CMA, Software targeting, Prenatal, VUS, Prenatal testing, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Joo Wook Ahn, author1, Michael Coldwell, author2, Susan Bint, author2, Caroline Mackie Ogilvie, author1
المصدر: Journal of Visualized Experiments. (96)
الإتاحة: http://www.jove.com/video/51718
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المؤلفون: Ved Bhushan Arya, Ekaterini Vamvakiti, Tony Hulse, Michal Ajzensztejn, Nadia Muhi-Iddin, Aparna K.R. Nambisan, Garima Chawla, Ritika R. Kapoor, Charles R. Buchanan, Clare Ferreira Pinto, Susan Bint, Nayana Lahiri
المصدر: Hormone Research in Paediatrics. 92:382-389
مصطلحات موضوعية: Neural tube defect, Endocrinology, Diabetes and Metabolism, Neural tube, Hypopituitarism, Micropenis, Biology, medicine.disease, Bioinformatics, Phenotype, Endocrinology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, Genetic redundancy, Septum pellucidum
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a459fc046a6e19ab23d37c7d8e4f6847
https://doi.org/10.1159/000503784 -
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المؤلفون: Susan Bint, Emily Cottrell, Vivian Hwa, Avril Mason, Gudrun E. Moore, Miho Ishida, Neil Wright, Iman Al Basiri, Louise A. Metherell, Leo Dunkel, Stephen J Rose, Helen L Storr, Joo Wook Ahn, Artur Bossowski, Sumana Chatterjee, Asma Deeb, Claudia P. Cabrera, James Greening
المصدر: European Journal of Endocrinology
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genome-wide association study, Biology, Growth hormone, Short stature, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Copy-number variation, Genetic Testing, Insulin-Like Growth Factor I, Child, Gene, Genetics, Human Growth Hormone, Wnt signaling pathway, Infant, General Medicine, medicine.disease, Idiopathic short stature, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Clinical Study, Female, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e5c036083d3b0afa33f5f620e75070
https://pubmed.ncbi.nlm.nih.gov/33055295 -
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المؤلفون: James Greening, Gudrun E. Moore, Miho Ishida, Neil Wright, Helen L Storr, Martin O. Savage, Avril Mason, Louise A. Metherell, Basiri Iman Al, Artur Bossowski, Sumana Chatterjee, Emily Cottrell, Asma Deeb, Stephen J Rose, Susan Bint, JooWook Ahn
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: Genetics, medicine, Copy-number variation, medicine.symptom, Biology, Short stature, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31ca26688e1a53e2732a0840f2008035
https://doi.org/10.1530/endoabs.58.oc5.8 -
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المؤلفون: Susan Bint, Caroline Mackie Ogilvie
المصدر: Reproductive BioMedicine Online. 37:651
مصطلحات موضوعية: Chromosome Aberrations, 0301 basic medicine, Genetics, Pregnancy, 030219 obstetrics & reproductive medicine, Interpretation (philosophy), MEDLINE, Obstetrics and Gynecology, Chromosome, Chromosome Disorders, Biology, Abortion, medicine.disease, Spermatozoa, Chromosomes, Abortion, Spontaneous, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Reproductive Medicine, medicine, Humans, Female, Developmental Biology
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المؤلفون: Farkhondeh Behjati, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Susan Bint, Caroline Mackie Ogilvie, Iman Bagherizadeh, Hossein Najmabadi, Yousef Shafaghati
المصدر: European Journal of Medical Genetics. 51:608-614
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Derivative chromosome, Developmental Disabilities, Biology, Chromosome 16, Genetics, medicine, Humans, Abnormalities, Multiple, Syndactyly, Autistic Disorder, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Psychomotor retardation, Infant, General Medicine, Anatomy, medicine.disease, Hypotonia, Chromosome Banding, Developmental disorder, Autism, Female, Tandem exon duplication, medicine.symptom, Chromosomes, Human, Pair 16
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المؤلفون: Michael Coldwell, Caroline Mackie Ogilvie, Susan Bint, Joo Wook Ahn
المصدر: Journal of Visualized Experiments.
مصطلحات موضوعية: Comparative Genomic Hybridization, DNA Copy Number Variations, General Immunology and Microbiology, Genome, Human, Oligonucleotide, Chemistry, General Chemical Engineering, General Neuroscience, Hybridization probe, Copy number analysis, High-Throughput Nucleotide Sequencing, DNA, Genome, Molecular biology, General Biochemistry, Genetics and Molecular Biology, Karyotyping, Humans, Human genome, Copy-number variation, DNA Probes, Molecular Biology, Virtual karyotype, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9b6f5083872c6190ee63c9d4165137
https://doi.org/10.3791/51718 -
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المؤلفون: Julian Barwell, Susan Bint, Pamela Warburton, Miranda Splitt, Caroline Mackie Ogilvie, Darryl J. Maxwell
المصدر: European Journal of Human Genetics. 11:749-753
مصطلحات موضوعية: Adult, Male, Neocentromere, Derivative chromosome, Marker chromosome, Centromere, Ring chromosome, Mitosis, Biology, Chromosome 16, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Ring Chromosomes, Fetal Death, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Telomere, Molecular biology, Chromosome Banding, Phenotype, Chromosome 4, Karyotyping, Female, Chromosomes, Human, Pair 4, Chromosome 21, Chromosome 22, Cell Division, Gene Deletion
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المؤلفون: Shehla Mohammed, Caroline Mackie Ogilvie, Susan Bint, Melita Irving, Phillipa M. Kyle, Joo Wook Ahn, Ranjit Akolekar
المصدر: PeerJ, Vol 2, p e354 (2014)
PeerJمصطلحات موضوعية: Microarray, endocrine system diseases, lcsh:Medicine, Array CGH, CMA, Bioinformatics, Prenatal testing, General Biochemistry, Genetics and Molecular Biology, Gene duplication, mental disorders, Genetics, Medicine, Prenatal, Clinical significance, Copy-number variation, business.industry, General Neuroscience, lcsh:R, Chromosome, Karyotype, General Medicine, Ethical Issues, VUS, Parental anxiety, General Agricultural and Biological Sciences, business, Medical Genetics, Testing software, Software targeting
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a57dd68af48a11378108595f8eed9b8
https://doi.org/10.7287/peerj.preprints.221v1