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: 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: 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: 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: 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: 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: Emily S Doherty, Felicitas Lacbawan, Donald W Hadley, Carmen Brewer, Christopher Zalewski, H Jeff Kim, Beth Solomon, Kenneth Rosenbaum, Demetrio L Domingo, Thomas C Hart, Brian P Brooks, Ladonna Immken, R Brian Lowry, Virginia Kimonis, Alan L Shanske, Fernanda Sarquis Jehee, Maria Rita, Passos Bueno, Carol Knightly, Donna Mcdonald-Mcginn, Elaine H Zackai, Maximilian Muenke

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://genoma.ib.usp.br/sites/default/files/publicacoes/muenke_syndrome.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1073.3541; http://genoma.ib.usp.br/sites/default/files/publicacoes/muenke_syndrome.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1073.3541
http://genoma.ib.usp.br/sites/default/files/publicacoes/muenke_syndrome.pdf

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: Tanya Bedard, R. Brian Lowry

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 181(3)

مصطلحات موضوعية: musculoskeletal diseases, Arthrogryposis, Arthrogryposis multiplex congenita, business.industry, Computer science, MEDLINE, Computational biology, Disease, Health informatics, Gene Ontology, Phenotype, Coding systems, Human Phenotype Ontology, Genetics, OMIM : Online Mendelian Inheritance in Man, Humans, business, Genetics (clinical), Coding (social sciences)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869928bb0e79988a365e053665db1cf9
https://pubmed.ncbi.nlm.nih.gov/31232506

المؤلفون: Tanya Bedard, R. Brian Lowry, Barbara Sibbald, Susan Crawford

المصدر: American journal of medical genetics. Part A. 179(6)

مصطلحات موضوعية: business.industry, Cleft Lip, Alberta canada, Archaeology, California, Alberta, Cleft Palate, Population Surveillance, Genetics, Prevalence, Medicine, Humans, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a954ada6a24fb23ec42e49abefc3e1
https://pubmed.ncbi.nlm.nih.gov/30908857

المؤلفون: B. Calypse Agborsangaya, Tanya Bedard, Barbara Sibbald, Susan Crawford, R. Brian Lowry, Amanda J. MacFarlane

المصدر: Birth defects research. 111(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Embryology, Pediatrics, medicine.medical_specialty, Health, Toxicology and Mutagenesis, Prevalence, 030105 genetics & heredity, Toxicology, Alberta, 03 medical and health sciences, Folic Acid, Pregnancy, Medicine, Humans, Neural Tube Defects, Socioeconomic status, Spinal Dysraphism, Anencephaly, business.industry, Spina bifida, Significant difference, Alberta canada, medicine.disease, Micronutrient, 030104 developmental biology, Folic acid, Pediatrics, Perinatology and Child Health, Dietary Supplements, Food, Fortified, Female, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b869f29a64130e2ee6e08838203b1a
https://pubmed.ncbi.nlm.nih.gov/30561844

المؤلفون: Barbara Sibbald, Tanya Bedard, Susan Crawford, R. Brian Lowry, Gerhard Kiefer

المصدر: American journal of medical genetics. Part A. 176(1)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Limb Deformities, Congenital, Syndrome, 030105 genetics & heredity, History, 20th Century, History, 21st Century, Alberta, 03 medical and health sciences, Population Surveillance, Genetics, Etiology, Medicine, Humans, Abnormalities, Multiple, Registries, business, Live Birth, Genetics (clinical), Foot (unit)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1dd2c4084b572c75d2aa764801ce3f
https://pubmed.ncbi.nlm.nih.gov/29168277

المؤلفون: Tanya Bedard, R. Brian Lowry

المصدر: Annals of the New York Academy of Sciences

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Physiology, business.industry, Original Articles, General Medicine, Biochemistry, spina bifida, Natural history, folic acid, prevention, neural tube defects, Population Surveillance, surveillance, Genetics, medicine, Humans, health outcomes, Original Article, Registries, Public Health, business, Genetics (clinical), Nutrition

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b067028c9c530c17c529f58fea2ba569
https://doi.org/10.1016/j.ejmg.2018.10.005

المؤلفون: P Y Billie, Au, Hilary E, Racher, John M, Graham, Nancy, Kramer, R Brian, Lowry, Jillian S, Parboosingh, A Micheil, Innes, Steve, Scherer

المصدر: American Journal of Medical Genetics Part A. 164:676-684

مصطلحات موضوعية: Marfan syndrome, Connective Tissue Disorder, Mutation, Missense, Bioinformatics, Marfan Syndrome, Craniosynostosis, Craniosynostoses, Exon, Proto-Oncogene Proteins, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Genetics (clinical), biology, business.industry, SKI protein, Brain, Facies, Shprintzen–Goldberg syndrome, Exons, medicine.disease, Magnetic Resonance Imaging, DNA-Binding Proteins, Arachnodactyly, Phenotype, Spinal Cord, Child, Preschool, biology.protein, Female, Tomography, X-Ray Computed, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04aa55a1a4fc0b8e6245e9a669b6e56e
https://doi.org/10.1002/ajmg.a.36340

المؤلفون: Francois P. Bernier, Amy Metcalfe, Suzanne Tough, R. Brian Lowry, Barbara Sibbald

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 100:59-66

مصطلحات موضوعية: Embryology, Database, business.industry, Medical record, Health services research, General Medicine, Disease, computer.software_genre, Pediatrics, Perinatology and Child Health, Health care, Cohort, Medicine, Diagnosis code, business, computer, Kappa, Developmental Biology, Coding (social sciences)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::34b2d79d778ed7ee1996d3706af324c5
https://doi.org/10.1002/bdra.23206

المؤلفون: Tanya Bedard, Joyce Harder, Barbara Sibbald, R. Brian Lowry, John D. Dyck, Cynthia Trevenen, Vera Horobec

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 97:564-570

مصطلحات موضوعية: Embryology, Pediatrics, medicine.medical_specialty, business.industry, Coarctation of the aorta, Alberta canada, Ventricular outflow tract obstruction, Heart defect, General Medicine, Odds ratio, medicine.disease, Confidence interval, Folic acid fortification, Pediatrics, Perinatology and Child Health, medicine, Etiology, medicine.symptom, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69f0f9a8f6ee18f47c530c383aa0187f
https://doi.org/10.1002/bdra.23162

المؤلفون: Tanya Bedard, R. Brian Lowry, Cynthia Trevenen, Joyce Harder, Barbara Sibbald, Vera Horobec, John D. Dyck

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 97:79-86

مصطلحات موضوعية: Heart Defects, Congenital, Male, Urologic Diseases, Embryology, Pediatrics, medicine.medical_specialty, Gastrointestinal Diseases, Comorbidity, Alberta, symbols.namesake, Central Nervous System Diseases, Prevalence, Humans, Medicine, Child, Retrospective Studies, business.industry, Infant, Newborn, Infant, Alberta canada, General Medicine, Musculoskeletal Abnormalities, Child, Preschool, Population Surveillance, Pediatrics, Perinatology and Child Health, Mendelian inheritance, symbols, Etiology, Female, business, Heterotaxy, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a34d54017661ed8317706eceeea9078
https://doi.org/10.1002/bdra.23104

المؤلفون: Tanya, Bedard, R Brian, Lowry, Barbara, Sibbald, Mary Ann, Thomas, A Micheil, Innes

المصدر: Journal of registry management. 43(1)

مصطلحات موضوعية: Vital Statistics, Comparative Genomic Hybridization, DNA Copy Number Variations, International Classification of Diseases, Population Surveillance, Infant, Newborn, Humans, Registries, Alberta, Congenital Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1989159dc2c1dcf3bd0fc473fc171544
https://pubmed.ncbi.nlm.nih.gov/27195992

المؤلفون: Marcia L. Feldkamp, Melinda Csáky-Szunyogh, Antonin Sipek, Natasha Nassar, Csaba Siffel, Babak Khoshnood, Emanuele Leoncini, Miland N. Palmer, Mark A. Canfield, Carol Bower, R. Brian Lowry, Nathalie Lelong, Paul Merlob, Osvaldo M. Mutchinick, Anke Rissmann, Emmanuelle Amar, Marian K. Bakker, Jazmín Arteaga-Vázquez, David Tucker, Pierpaolo Mastroiacovo, Eduardo E. Castilla, Elena Szabova, Guido Cocchi, Julia Metneki, Danielle Landau, Adolfo Correa, Margery Morgan, R. McDonnell, Jorge S. Lopez-Camelo

المساهمون: Methods in Medicines evaluation & Outcomes research (M2O), Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Birth Defects Research. Part A: Clinical and Molecular Teratology, 94(11), 893-899. Wiley-Blackwell

مصطلحات موضوعية: Male, ANOMALIES, Embryology, medicine.medical_specialty, Pediatrics, IMPACT, International Cooperation, prevalence, Population, UNITED-STATES, Prenatal diagnosis, Article, TRACHEOESOPHAGEAL FISTULA, Pregnancy, Epidemiology, Ethnicity, Humans, EPIDEMIOLOGY, Medicine, CLEARINGHOUSE, Registries, esophageal atresia, PRENATAL-DIAGNOSIS, education, TERMINATIONS, education.field_of_study, congenital anomalies, business.industry, Obstetrics, Infant, General Medicine, Stillbirth, REGIONS, medicine.disease, CONGENITAL-MALFORMATIONS, Confidence interval, Population Surveillance, Pediatrics, Perinatology and Child Health, Etiology, Population study, Female, business, Live birth, Live Birth, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e21b50458515c3436759e94ed1a172
https://doi.org/10.1002/bdra.23067