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المؤلفون: Priya T. Bhola, Aren E. Marshall, Yijing Liang, Madeline Couse, Xueqi Wang, Elka Miller, Chantal F. Morel, Kym M. Boycott, Kristin D. Kernohan
المصدر: American Journal of Medical Genetics Part A. 191:1664-1668
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscò, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou
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المؤلفون: Taila, Hartley, Élisabeth, Soubry, Meryl, Acker, Matthew, Osmond, Madeline, Couse, Meredith K, Gillespie, Yoko, Ito, Aren E, Marshall, Gabrielle, Lemire, Lijia, Huang, Caitlin, Chisholm, Alison J, Eaton, E Magda, Price, James J, Dowling, Arun K, Ramani, Roberto, Mendoza-Londono, Gregory, Costain, Michelle M, Axford, Anna, Szuto, Vanda, McNiven, Nadirah, Damseh, Rebekah, Jobling, Leanne, de Kock, Bahareh A, Mojarad, Ted, Young, Zhuo, Shao, Robin Z, Hayeems, Ian D, Graham, Mark, Tarnopolsky, Lauren, Brady, Christine M, Armour, Michael, Geraghty, Julie, Richer, Sarah, Sawyer, Matthew, Lines, Saadet, Mercimek-Andrews, Melissa T, Carter, Gail, Graham, Peter, Kannu, Joanna, Lazier, Chumei, Li, Ritu B, Aul, Tugce B, Balci, Nomazulu, Dlamini, Lauren, Badalato, Andrea, Guerin, Jagdeep, Walia, David, Chitayat, Ronald, Cohn, Hanna, Faghfoury, Cynthia, Forster-Gibson, Hernan, Gonorazky, Eyal, Grunebaum, Michal, Inbar-Feigenberg, Natalya, Karp, Chantal, Morel, Alison, Rusnak, Neal, Sondheimer, Jodi, Warman-Chardon, Priya T, Bhola, Danielle K, Bourque, Inara J, Chacon, Lauren, Chad, Pranesh, Chakraborty, Karen, Chong, Asif, Doja, Elaine Suk-Ying, Goh, Maha, Saleh, Beth K, Potter, Christian R, Marshall, David A, Dyment, Kristin, Kernohan, Kym M, Boycott
المصدر: Clinical geneticsREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Matthias Pergande, Thomas Lücke, Ezgi Karaca, Hülya-Sevcan Daimagüler, James R. Lupski, Kym D. Kernohan, Pascal Joset, Jennifer E. Posey, Anna Kostera-Pruszczyk, Peter Nürnberg, Rosanne Sprute, Jaya Punetha, Anita Rauch, Sebahattin Cirak, Anju Shukla, Priya T. Bhola, Özkan Özdemir
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Fetal akinesia, business.industry, Medicine, Bioinformatics, business, Phenotype
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المؤلفون: Joseph de Nanassy, Chunyan Wang, Kristin D. Kernohan, Ruobing Zou, Gabrielle Lemire, Bryan Lo, Priya T. Bhola, Shirlee Shril, Caitlin Chisholm, Sherif El Desoky, Sarah L. Sawyer, Grace U Ediae, Jameela A. Kari, Kym M. Boycott, Bixia Zheng, Friedhelm Hildebrandt, Xueqi Wang, Mohammed Shalaby
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, medicine.medical_specialty, 030105 genetics & heredity, Kidney, Renal tubule morphogenesis, Article, Congenital Abnormalities, 03 medical and health sciences, Mice, Pregnancy, Genetics, medicine, Animals, Humans, Child, Urinary Tract, Renal agenesis, Genetics (clinical), business.industry, Homozygote, Infant, medicine.disease, Renal hypoplasia, Hypoplasia, Bilateral Renal Agenesis, Wnt Proteins, 030104 developmental biology, Kidney Tubules, Dysplasia, Agenesis, Urogenital Abnormalities, Female, Kidney Diseases, business
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المؤلفون: Amir Afkham, Gail E. Graham, Priya T. Bhola, Clare Liddy, Erin Keely
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Referral, MEDLINE, Genetic Counseling, Primary care, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetics (clinical), Ontario, Service (business), 0303 health sciences, Primary Health Care, Electronic consultation, business.industry, 030305 genetics & heredity, Geneticist, Telemedicine, 3. Good health, 030220 oncology & carcinogenesis, Family medicine, Medical genetics, Female, Hereditary Cancer, business, Delivery of Health Care
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المؤلفون: Cathy Gilpin, Gail E. Graham, Amanda Smith, Priya T. Bhola
المصدر: Familial Cancer. 17:615-620
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Skin Neoplasms, Adolescent, Cutaneous Leiomyoma, urologic and male genital diseases, Fumarate Hydratase, 03 medical and health sciences, 0302 clinical medicine, Leiomyomatosis, Germline mutation, Neoplastic Syndromes, Hereditary, Internal medicine, Epidemiology, Genetics, Humans, Medicine, Genetic Testing, Child, Referral and Consultation, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, Retrospective review, business.industry, Middle Aged, Multiple cutaneous leiomyoma, female genital diseases and pregnancy complications, Human genetics, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Uterine Neoplasms, Female, Cell cancer, business
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المؤلفون: Eric Bareke, Taila Hartley, Kym M. Boycott, David A. Dyment, Sarah M. Nikkel, Priya T. Bhola
المصدر: Journal of human genetics. 62(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Genetic counseling, Genetic Counseling, Biology, Cutis Laxa, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Missense mutation, Rare syndrome, Humans, Genetic Predisposition to Disease, Child, Gene, Genetics (clinical), Aldehyde dehydrogenase 18 family, member A1, De novo mutation, Aldehyde Dehydrogenase, medicine.disease, 030104 developmental biology, Clinical diagnosis, Mutation, 030217 neurology & neurosurgery, Cutis laxa
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المؤلفون: Sidney Croul, Sutapa Banerjee, Kelly Burrell, Anand Balasubramanium, Zia Karim, Vedant Arun, David H. Gutmann, Priya T. Bhola, Joydeep Mukherjee, Abhijit Guha
المصدر: International Journal of Cancer. 126:563-571
مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Blotting, Western, Drug Evaluation, Preclinical, Apoptosis, Malignant peripheral nerve sheath tumor, Mice, SCID, Mice, Young Adult, Mice, Inbred NOD, Peripheral Nervous System Neoplasms, medicine, Animals, Humans, Cyclin D1, Protein kinase B, PI3K/AKT/mTOR pathway, Sirolimus, Antibiotics, Antineoplastic, Dose-Response Relationship, Drug, biology, business.industry, Ribosomal Protein S6 Kinases, TOR Serine-Threonine Kinases, RPTOR, medicine.disease, Immunohistochemistry, Xenograft Model Antitumor Assays, Neurofibromin 1, Tumor Burden, nervous system diseases, Transplantation, Oncology, Cancer research, biology.protein, business, Protein Kinases, Proto-Oncogene Proteins c-akt, Signal Transduction, medicine.drug
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المؤلفون: Parisa Sadatmousavi, Priya T. Bhola, Shan-Yu Fung, Hong Yang, Pu Chen, Edward Muzar, Mingyao Liu
المصدر: Advanced Functional Materials. 19:74-83
مصطلحات موضوعية: chemistry.chemical_classification, Aqueous solution, Stereochemistry, Chemistry, Vesicle, Peptide, Condensed Matter Physics, Controlled release, Electronic, Optical and Magnetic Materials, Biomaterials, chemistry.chemical_compound, Membrane, Phosphatidylcholine, Drug delivery, Electrochemistry, Biophysics, Self-assembling peptide