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1دورية أكاديمية
المؤلفون: Brian Lowry, Xiuyuan Li, Thomas Robbins, David E. Cane, Chaitan Khosla
المصدر: ACS Central Science, Vol 2, Iss 1, Pp 14-20 (2016)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: R. Brian Lowry, Tanya Bedard, Xin Grevers, Susan Crawford, Steven C. Greenway, Mary E. Brindle, Harvey B. Sarnat, A. Robertson Harrop, Gerhard N. Kiefer, Mary Thomas
المصدر: Health Promotion and Chronic Disease Prevention in Canada, Vol 43, Iss 1, Pp 40-48 (2023)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://www.canada.ca/en/public-health/services/reports-publications/health-promotion-chronic-disease-prevention-canada-research-policy-practice/vol-43-no-1-2023/alberta-congenital-anomalies-surveillance-system-40-year-review-prevalence-trends-1997-2019.html; https://doaj.org/toc/2368-738X
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3دورية أكاديمية
المؤلفون: R. Brian Lowry, Tanya Bedard, Xin Grevers, Susan Crawford, Steven C. Greenway, Mary E. Brindle, Harvey B. Sarnat, A. Robertson Harrop, Gerhard N. Kiefer, Mary Thomas
المصدر: Promotion de la santé et prévention des maladies chroniques au Canada, Vol 43, Iss 1, Pp 42-51 (2023)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://www.canada.ca/fr/sante-publique/services/rapports-publications/promotion-sante-prevention-maladies-chroniques-canada-recherche-politiques-pratiques/vol-43-no-1-2023/systeme-surveillance-anomalies-congenitales-alberta-donnees-40-ans-prevalence-tendances-1997-2019.html; https://doaj.org/toc/2368-7398
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المؤلفون: Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina
المصدر: Journal of medical genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Francois P. Bernier, Tanya Bedard, Xin Grevers, R. Brian Lowry, Susan Crawford, Mary Ann Thomas
المصدر: American Journal of Medical Genetics Part A. 182:2594-2604
مصطلحات موضوعية: Heart Defects, Congenital, Male, Rural Population, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Population, Prevalence, 030105 genetics & heredity, Tricuspid Atresia, Alberta, Congenital Abnormalities, Consanguinity, 03 medical and health sciences, Genetics, medicine, Humans, Neural Tube Defects, Tricuspid atresia, education, Life Style, Genetics (clinical), Tetralogy of Fallot, Gastroschisis, Hypospadias, education.field_of_study, Omphalocele, business.industry, Spina bifida, Infant, Newborn, Environmental Exposure, medicine.disease, Cleft Palate, 030104 developmental biology, Female, business, Hernia, Umbilical
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المؤلفون: David Tucker, Miriam Gatt, Barry Borman, Wendy N. Nembhard, A. J. Agopian, Jorieke E. H. Bergman, Giovanna Tagliabue, Margery Morgan, Karin Kallen, Natasha Nassar, M. Aaurora Canessa, Wei Luo, Pierpaolo Mastroiacovo, Eva Bermejo-Sánchez, Rosa Gajardo, Xiao Yu, Elena Szabova, Mark A. Canfield, Carol Bower, Juan Andrés León, Jocelyn Rouleau, Antonin Sipek, R. Brian Lowry, Charlotte A. Hobbs, Melinda Csáky-Szunyogh, Boris Groisman, Ignacio Zarante, Hermien E. K. de Walle, Janet D. Cragan, Sonja Kiuru-Kuhlefelt, Amy Nance, Annukka Ritvanen, Anke Rissmann, Emmanuelle Amar, Anna Pierini, Osvaldo M. Mutchinick, Nicolás Fernández, Saeed Dastgiri, Paolo Contiero, Dorit Goetz, Fabrizio Bianchi, Gareth Baynam, Adriana Benavides, Laura Elia Martínez-de-Villarreal
المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: European Urology, 76(4), 482-490. ELSEVIER SCIENCE BV
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Joinpoint regression, Urology, 030232 urology & nephrology, Global Health, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, Prevalence, Trend, medicine, Humans, EPIDEMIOLOGY, Statistical analysis, Registries, RATES, International Clearinghouse for Birth Defects Surveillance and Research, Patient summary, Hypospadias, Pregnancy, business.industry, Infant, Newborn, medicine.disease, Confidence interval, CONGENITAL-ANOMALIES, Population Surveillance, 030220 oncology & carcinogenesis, Population study, business, Demography
وصف الملف: application/pdf
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المؤلفون: Dhwani Patel, Hassan Hazari, Steven C. Greenway, Marie-Anne Brundler, P.V.S. Machiraju, R. Brian Lowry, Aneal Khan, Vlad Degtiarev, Tanya Bedard, David S. Sinasac
المصدر: Journal of inherited metabolic diseaseREFERENCES. 45(2)
مصطلحات موضوعية: Cardiomyopathy, Dilated, Pathology, medicine.medical_specialty, Ataxia, Mitochondrial Diseases, Cerebellar Ataxia, Mitochondrial disease, Population, Disease, Genetics, medicine, Humans, education, Genetics (clinical), education.field_of_study, business.industry, DNAJC19, Dilated cardiomyopathy, Syndrome, medicine.disease, Fibrosis, Phenotype, Cohort, Small for gestational age, medicine.symptom, business, Metabolism, Inborn Errors
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المؤلفون: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
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المؤلفون: R. Brian Lowry, Gerhard Kiefer, Kimberly R. Sass, Tanya Bedard
المصدر: The Journal of Hand Surgery. 42:378-381
مصطلحات موضوعية: 0301 basic medicine, 030222 orthopedics, business.industry, Anatomy, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Humans, Medicine, Upper limb, Orthopedics and Sports Medicine, Surgery, Upper Extremity Deformities, Congenital, business
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المؤلفون: Maureen E. Hillenmeyer, Gergana A. Vandova, Robert V. O’Brien, Curt R. Fischer, Brian Lowry, Chaitan Khosla, Thomas Robbins, Ronald W. Davis, Colin J. B. Harvey
المصدر: The Journal of Antibiotics
مصطلحات موضوعية: 0301 basic medicine, Antifungal, Methylmalonyl-CoA Decarboxylase, medicine.drug_class, Antiparasitic, Biology, medicine.disease_cause, complex mixtures, Gene Expression Regulation, Enzymologic, Microbiology, Beta-lactam, 03 medical and health sciences, chemistry.chemical_compound, Polyketide, Biosynthesis, Drug Discovery, Escherichia coli, medicine, Propionyl-CoA, Pharmacology, respiratory system, Note, 3. Good health, 030104 developmental biology, chemistry, Biochemistry, Polyketides, bacteria, lipids (amino acids, peptides, and proteins), Heterologous expression, Polyketide Synthases, human activities