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1دورية أكاديمية
المؤلفون: Kathleen Bone, Melissa Jean MacPherson, Judy Chernos, Julie Lauzon
المصدر: Clinical Case Reports, Vol 7, Iss 11, Pp 2165-2168 (2019)
مصطلحات موضوعية: chromoanasynthesis, chromosome 21, complex chromosomal rearrangement, fetal hydrops, noninvasive prenatal testing, prenatal diagnosis, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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المؤلفون: Nicholas M Allen, Mark O’Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Álvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W Jacobson, Xiaobo Jie, Miguel A Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
المصدر: Brain.
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::34284e62cb5632e5fa3d1b50598045eb
https://doi.org/10.1093/brain/awad153 -
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المؤلفون: Selphee Tang, David A. Somerset, Marie-Anne Brundler, Cindy Kao, Julie Lauzon
المصدر: Prenatal Diagnosis. 41:308-315
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Duodenum, Urinary Bladder, Aneuploidy, Gestational Age, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Fetal megacystis, medicine, Humans, Genetics (clinical), Retrospective Studies, Ultrasonography, Fetus, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Ultrasound, Pregnancy Outcome, Obstetrics and Gynecology, Retrospective cohort study, Megacystis, Prognosis, medicine.disease, Fetal Diseases, Gestation, Female, business, Urinary tract obstruction
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المؤلفون: Judy Chernos, Kathleen Bone, Julie Lauzon, Melissa Jean MacPherson
المصدر: Clinical Case Reports, Vol 7, Iss 11, Pp 2165-2168 (2019)
Clinical Case Reportsمصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Prenatal diagnosis, Case Report, noninvasive prenatal testing, Chromosomal rearrangement, Case Reports, 030204 cardiovascular system & hematology, 03 medical and health sciences, fetal hydrops, 0302 clinical medicine, Fetal hydrops, chromoanasynthesis, medicine, complex chromosomal rearrangement, Fetus, lcsh:R5-920, prenatal diagnosis, Obstetrics, business.industry, lcsh:R, General Medicine, chromosome 21, 030220 oncology & carcinogenesis, business, Chromosome 21, lcsh:Medicine (General)
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المؤلفون: Leslie C. James, Meghan J. Elliott, Louis Girard, Emily Lauren Simms, Mark Elliott, Kim Cheema, Justin Chun, Julie Lauzon, Priyana Sharma
المصدر: Canadian Journal of Kidney Health and Disease
Canadian Journal of Kidney Health and Disease, Vol 8 (2021)مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, medical genetics, medicine.diagnostic_test, Referral, Adult patients, business.industry, Program Report, Autosomal dominant polycystic kidney disease, next generation sequencing (NGS), chronic kidney disease (CKD), Mainstreaming, medicine.disease, urologic and male genital diseases, Diseases of the genitourinary system. Urology, mainstream, genetic testing, kidney failure, Nephrology, medicine, Medical genetics, RC870-923, business, Genetic testing, autosomal dominant polycystic kidney disease (ADPKD)
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المؤلفون: Philippe Seguin, Gilles Bélanger, Rachel Gervais, Julie Lauzon, Julie Lajeunesse, Gaëtan F. Tremblay
المصدر: Agronomy Journal. 111:1371-1380
مصطلحات موضوعية: Agronomy, Agronomy and Crop Science, Value (mathematics), Mathematics
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المؤلفون: Laura M. Schmitt, Rati Chadha, Bob Argiropoulos, Julie Lauzon, Elaine S Chan, Lothar Resch
المصدر: Pediatric and Developmental Pathology. 22:166-170
مصطلحات موضوعية: medicine.medical_specialty, Autopsy, Neuropathology, Ultrasonography, Prenatal, Hemoglobin Barts, Pathology and Forensic Medicine, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, alpha-Thalassemia, Pregnancy, hemic and lymphatic diseases, Hydrops fetalis, medicine, Humans, Fetus, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Infant, Newborn, Brain, General Medicine, medicine.disease, Hemoglobinopathy, Gliosis, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ce3ff87253c9a0d3454a1d9ed8ccea
https://doi.org/10.1177/1093526618817655 -
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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
https://hdl.handle.net/11424/243257 -
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المؤلفون: Adam Kirton, Bob Argiropoulos, Caitlin A. Chang, Julie Lauzon
المصدر: Pediatric Neurology. 100:100-101
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, X-linked intellectual disability, business.industry, Ischemia, MEDLINE, Childhood stroke, medicine.disease, ACSL4, Brain ischemia, Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Stroke