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1دورية أكاديمية
المؤلفون: Suchitra K. Hourigan, Wei Zhu, Wendy S.W.Wong, Nicole C. Clemency, Marina Provenzano, Thierry Vilboux, John E. Niederhuber, John Deeken, Simon Chung, Kim McDaniel-Wiley, Donald Trump
المصدر: BMC Urology, Vol 20, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Urine, Microbiome, Cystoscopy, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2490
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2دورية أكاديمية
المؤلفون: Dale L. Bodian, Thierry Vilboux, Natalie S. Hauser
المصدر: Allergy, Asthma & Clinical Immunology, Vol 15, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Nextgen sequencing, Clinical sequencing, Hereditary angioedema, Angioedema, Plasminogen, PLG, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Krithika Bhuvaneshwar, Michael Harris, Yuriy Gusev, Subha Madhavan, Ramaswamy Iyer, Thierry Vilboux, John Deeken, Elizabeth Yang, Sadhna Shankar
المصدر: BMC Cancer, Vol 19, Iss 1, Pp 1-16 (2019)
مصطلحات موضوعية: Whole genome sequencing, Childhood cancers, Drug resistance, Osteosarcoma, Pharmacogenomics, Genetics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Megan S. Kane, Callie J. Diamonstein, Natalie Hauser, John F. Deeken, John E. Niederhuber, Thierry Vilboux
المصدر: Genes and Diseases, Vol 6, Iss 1, Pp 56-67 (2019)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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5
المؤلفون: RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
المصدر: Am J Med Genet C Semin Med Genet
مصطلحات موضوعية: Adult, Male, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Article, Retina, Cerebellum, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Physical Examination, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4
https://doi.org/10.1002/ajmg.c.31966 -
6
المؤلفون: Cathy D. Vocke, Leah R. Fleming, Anna M. Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock, Lindsay A. Middelton, Laura S. Schmidt, Maria J. Merino, Edward W. Cowen, Wendy J. Introne, W. Marston Linehan, Ann C. M. Smith
المصدر: Am J Med Genet A
مصطلحات موضوعية: Genetics, Genetics (clinical), Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d0a647de25a4ef258be2894749b511
https://europepmc.org/articles/PMC10117402/ -
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المؤلفون: Carlos Ferreira, Amit Mary Philosoph, Assaf Arie Barg, Dror S. Shouval, Helly Vernitsky, Ben Pode-Shakked, Gali Heimer, Dana Levinkopf, Gili Kenet, William A. Gahl, Yair Anikster, Mariska Davids, Dina Marek-Yagel, Thierry Vilboux, Ninette Amariglio, Avishay Lahad, Marina Safaniev, Michalle Soudack, Chen Hoffmann, Maya Lodzki, Bruria Ben-Zeev, May Christine V. Malicdan, Naomi Pode-Shakked, Alvit Veber, Ayman Daka, Batia Weiss
المصدر: Molecular Genetics and Metabolism. 128:151-161
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Glycosylphosphatidylinositols, Endocrinology, Diabetes and Metabolism, Atypical absence seizures, Prenatal diagnosis, Disease, 030105 genetics & heredity, medicine.disease_cause, Bioinformatics, Mannosyltransferases, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Seizures, Genetics, medicine, Humans, Child, Promoter Regions, Genetic, Molecular Biology, Mutation, Portal Vein, business.industry, Macrocephaly, Infant, Thrombosis, Sodium phenylbutyrate, medicine.disease, Magnetic Resonance Imaging, Phenotype, Megalencephaly, Portal vein thrombosis, Child, Preschool, Female, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
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8
المؤلفون: Natalie Hauser, Thierry Vilboux, Dale L. Bodian
المصدر: Allergy, Asthma & Clinical Immunology, Vol 15, Iss 1, Pp 1-4 (2019)
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunologyمصطلحات موضوعية: 0301 basic medicine, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Genetic testing, PLG, Case Report, C1-inhibitor, Diagnostic yield, 03 medical and health sciences, 0302 clinical medicine, medicine, Medical history, Angioedema, Clinical sequencing, Hereditary angioedema, medicine.diagnostic_test, biology, Nextgen sequencing, business.industry, Plasminogen, General Medicine, medicine.disease, Personalized medicine, Dermatology, 3. Good health, 030104 developmental biology, 030228 respiratory system, Cohort, biology.protein, Etiology, Differential diagnosis, medicine.symptom, business, lcsh:RC581-607
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المؤلفون: Thierry Vilboux, Natalie Hauser, John E. Niederhuber, John F. Deeken, Megan S. Kane, Callie J. Diamonstein
المصدر: Genes and Diseases, Vol 6, Iss 1, Pp 56-67 (2019)
Genes & Diseasesمصطلحات موضوعية: lcsh:QH426-470, Endosome, Neurological malformation, Biology, Endocytosis, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, KIAA1109, Cilia, Cytoskeleton, Molecular Biology, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, lcsh:R5-920, Cilium, Cell Biology, Actin cytoskeleton, Phenotype, Cell biology, lcsh:Genetics, Vesicular trafficking, lcsh:Medicine (General), 030217 neurology & neurosurgery, Function (biology)
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10
المؤلفون: G. Larry Maxwell, Wendy S.W. Wong, Luis M. Gomez, Thomas P. Conrads, Xinyue Liu, Suchitra K. Hourigan, Sahel Hazrati, Kathi Huddleston, Thierry Vilboux, John E. Niederhuber, Keriann Schulkers, Prachi Kothiyal
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reportsمصطلحات موضوعية: Adult, Pore Forming Cytotoxic Proteins, 0301 basic medicine, Antimicrobial peptides, lcsh:Medicine, Disease, Article, Functional clustering, Andrology, 03 medical and health sciences, 0302 clinical medicine, Immune system, Downregulation and upregulation, Pregnancy, Gene expression, Humans, Medicine, Transcriptomics, lcsh:Science, Labor, Obstetric, Multidisciplinary, Cesarean Section, business.industry, Vaginal delivery, Postpartum Period, lcsh:R, Delivery, Obstetric, Antimicrobial, Delivery mode, Gene expression profiling, Elafin, Up-Regulation, Cross-Sectional Studies, 030104 developmental biology, Gene Expression Regulation, 030220 oncology & carcinogenesis, Female, lcsh:Q, Transcriptome, business