المؤلفون: Brian Lowry, Xiuyuan Li, Thomas Robbins, David E. Cane, Chaitan Khosla

المصدر: ACS Central Science, Vol 2, Iss 1, Pp 14-20 (2016)

مصطلحات موضوعية: Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2374-7943; https://doaj.org/toc/2374-7951

URL الوصول: https://doaj.org/article/1580879f9c7942019dbf16e21f809c77

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

URL الوصول: https://doaj.org/article/007dedce446948fbad9935d2e0966e99

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

URL الوصول: https://doaj.org/article/c2ac3f66a9eb4081b279e822012d89ce

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bffb4e835d7523c47cd124196049cf90
https://pubmed.ncbi.nlm.nih.gov/35882526

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99158e86e8e3bb959cb716e18ed147c
https://doi.org/10.1002/ajmg.a.61834

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727c15f6cf0dff6aff7a07e5af8efc56
https://doi.org/10.1016/j.eururo.2019.06.027

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15619d29a14e964977653094c151ba0a
https://pubmed.ncbi.nlm.nih.gov/34580891

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
https://hdl.handle.net/11424/243257

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1841b8bf8593628d77b024481fbde07a
https://doi.org/10.1016/j.jhsa.2017.02.018

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a51c91110b23211148e0ea07af85e14e
https://doi.org/10.1038/ja.2017.38