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1دورية أكاديمية
المؤلفون: Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Rajkovic, Svetlana A. Yatsenko, Urvashi Surti
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
مصطلحات موضوعية: benign hereditary chorea, chromosome 14q13.2‐q13.3, copy number variations, NKX2‐1, non‐coding regulatory elements, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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2دورية أكاديمية
المؤلفون: Jie Hu, Zhishuo Ou, Elena Infante, Sally J. Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
المصدر: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-7 (2017)
مصطلحات موضوعية: 12q13.13 Microdeletion/Microduplication, Array CGH, HOXC, SPT7, SP1, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13039-017-0326-4Test; https://doaj.org/toc/1755-8166Test
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المؤلفون: Marjolaine Arnaud, Philippe Sauthier, Nawel Mechtouf, Felicia Lazure, William Buckett, Jocelyne Arseneau, Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Richard K.J. Brown, Asangla Ao, Karine Hovanes, Fabrice Peers, Monica Aguinaga, Lori Hoffner, Neil S. Horowitz, Liane Tan, Kurosh Rahimi, Brigitte M. Ronnett, Basam Abu Rafea, Seang Lin Tan, Trilochan Sahoo, Rima Slim, Magali Breguet, Urvashi Surti
المصدر: Modern Pathology. 33:880-892
مصطلحات موضوعية: 0301 basic medicine, Gynecology, Pregnancy, education.field_of_study, medicine.medical_specialty, Pathology, business.industry, Choriocarcinoma, Population, medicine.disease, Confidence interval, 3. Good health, Pathology and Forensic Medicine, Miscarriage, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genotype, medicine, Genetic predisposition, Neoplastic transformation, business, education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f095afb378bafe2429e091ee72f10320Test
https://doi.org/10.1038/s41379-019-0432-4Test -
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المؤلفون: B Ab. Rafea, Philippe Sauthier, K Hovanes, Yassemine Khawajkie, Rima Slim, L Tan, M Aguinagua, Seang-Lin Tan, Richard Brown, William Buckett, Asangla Ao, T Sahoo, Urvashi Surti, Lori Hoffner, Neil S. Horowitz
المصدر: Human Reproduction. 36
مصطلحات موضوعية: Andrology, Molar, Reproductive Medicine, Rehabilitation, Genetic predisposition, Obstetrics and Gynecology, Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ec4021da21f0826f780d281e5e0725aaTest
https://doi.org/10.1093/humrep/deab130.552Test -
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المؤلفون: Keith A. Coffman, Urvashi Surti, Suneeta Madan-Khetarpal, Rocio Moran, Malini Sathanoori, Quasar S Padiath, Lori Hoffner, Neil R. Friedman, Allison Schreiber, Jie Hu, Svetlana A. Yatsenko, Joseph Locker, Robyn A. Filipink, Aleksandar Rajkovic, Jun Liao, Marianne McGuire, Bruce Nmezi
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Thyroid Nuclear Factor 1, Regulatory Sequences, Nucleic Acid, benign hereditary chorea, QH426-470, 030105 genetics & heredity, Biology, Clinical Reports, DNA sequencing, 03 medical and health sciences, Benign hereditary chorea, chromosome 14q13.2‐q13.3, Chorea, Genetics, Humans, Copy-number variation, Child, Molecular Biology, Gene, Conserved Sequence, non‐coding regulatory elements, Genetics (clinical), Sequence Deletion, Sequence (medicine), Chromosomes, Human, Pair 14, Clinical Report, Microarray analysis techniques, Chromosome, Phenotype, Pedigree, copy number variations, 030104 developmental biology, Female, NKX2‐1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4eeab4ab01b98da1aa6ce183e55d89Test
https://doi.org/10.1002/mgg3.1647Test -
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المؤلفون: Jeffrey F. Bonadio, Lori Hoffner, Urvashi Surti, Svetlana A. Yatsenko, Rosemary A. Fisher, Nancy B. Spinner, W. Tony Parks, Laura K. Conlin, Jason C. Carson
المصدر: American Journal of Medical Genetics Part A. 176:2720-2732
مصطلحات موضوعية: 0301 basic medicine, Blastomeres, Cell division, Zygote, Biopsy, Chromosome Disorders, Biology, Polymorphism, Single Nucleotide, Genome, Miscarriage, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), 030219 obstetrics & reproductive medicine, Mosaicism, fungi, food and beverages, Genomics, Blastomere, medicine.disease, Diploidy, Immunohistochemistry, Triploidy, Sperm, Abortion, Spontaneous, Phenotype, 030104 developmental biology, Cytogenetic Analysis, Female, Neonatal death, Ploidy, Biomarkers, Genome-Wide Association Study, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cd6b5c64dca7329103ed9c22abf4f6Test
https://doi.org/10.1002/ajmg.a.40646Test -
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المؤلفون: Karine Hovanes, William Buckett, Seang Lin Tan, Fabrice Peers, Felicia Lazure, Neil S. Horowitz, Jocelyne Arseneau, Asangla Ao, Rima Slim, Brigitte M. Ronnett, Yassemine Khawajkie, Nawel Mechtouf, Richard Brown, Magali Breguet, Basam Abu Rafea, Urvashi Surti, Trilochan Sahoo, Kurosh Rahimi, Ngoc Minh Phuong Nguyen, Monica Aguinaga, Lori Hoffner, Marjolaine Arnaud, Liane Tan, Philippe Sauthier
المصدر: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 33(6)
مصطلحات موضوعية: Molar, Pathology, medicine.medical_specialty, Hydatidiform moles, business.industry, Genotype, Medicine, business, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bc3e67a8eb0895d110c1b1e40690b7aTest
https://pubmed.ncbi.nlm.nih.gov/31857680Test -
8دورية أكاديمية
المؤلفون: Megan M McGuire, Alexander Yatsenko, Lori Hoffner, Mirka Jones, Urvashi Surti, Aleksandar Rajkovic
المصدر: PLoS ONE, Vol 7, Iss 3, p e33251 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3299761?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Svetlana A. Yatsenko, Jie Hu, Daniel B. Bellissimo, Lori Hoffner, Urvashi Surti, W. Tony Parks
المصدر: Placenta. 57:33-41
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Placenta Diseases, GRB10 Adaptor Protein, Population, 030105 genetics & heredity, Biology, Placental Mesenchymal Dysplasia, Young Adult, 03 medical and health sciences, Pregnancy, Placenta, medicine, Humans, Allele, education, Sequence Deletion, Partial Hydatidiform Mole, Genetics, education.field_of_study, medicine.diagnostic_test, Cysts, Genome, Human, Mosaicism, Obstetrics and Gynecology, Karyotype, Uniparental Disomy, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, Female, Genomic imprinting, Developmental Biology, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c34fbe531a687db35afb23a8b30ccdTest
https://doi.org/10.1016/j.placenta.2017.05.018Test -
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المؤلفون: Jessica Sebastian, Leslie Walsh, Sally J. Kochmar, Svetlana A. Yatsenko, Zhishuo Ou, Suneeta Madan-Khetarpal, Urvashi Surti, Jie Hu, Georgianne L. Arnold, Lori Hoffner, Roxanne Acquaro
المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Heart defect, Chromosome Disorders, Trisomy, Clinical manifestation, Congenital Abnormalities, Chromosome analysis, Prenatal Diagnosis, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Child, Genetics (clinical), Genetic testing, Chromosomes, Human, Pair 12, medicine.diagnostic_test, business.industry, Mosaicism, Infant, Newborn, Infant, medicine.disease, Peripheral blood, Phenotype, Child, Preschool, Female, Neonatal death, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b3141e46f3adda94ab25fde09f4ee74Test
https://pubmed.ncbi.nlm.nih.gov/31913574Test