Zobrazeno 1 - 10
of 2 652
pro vyhledávání: '"Lowry RB"'
Autor:
Thomas MA; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada.; Department of Pediatrics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Department of Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Bedard T; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada., Crawford S; Alberta Perinatal Health Program, Alberta Health Services, Calgary, Alberta, Canada., Lowry RB; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada.; Department of Pediatrics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Department of Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63594. Date of Electronic Publication: 2024 Mar 30.
Autor:
Bedard T; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada., Lowry RB; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada.; Departments of Pediatrics and Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Crawford S; Alberta Perinatal Health Program, Alberta Health Services, Calgary, Alberta, Canada., Wang TG; Provincial Research Data Services, Alberta Health Services, Edmonton, Alberta, Canada., Bakal J; Provincial Research Data Services, Alberta Health Services, Edmonton, Alberta, Canada., Metcalfe A; Department of Obstetrics and Gynecology, Foothills Medical Centre, Alberta Health Services, Calgary, Alberta, Canada., Harrop AR; Departments of Pediatrics and Surgery, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Section of Plastic Surgery, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada., Grevers X; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada., Thomas MA; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada.; Departments of Pediatrics and Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
Birth defects research [Birth Defects Res] 2024 Mar; Vol. 116 (3), pp. e2295. Date of Electronic Publication: 2024 Jan 05.
Autor:
Leoncini, Emanuele, Botto, Lorenzo D., Cocchi, Guido, Annerén, Goran, Bower, Carol, Halliday, Jane, Amar, Emmanuelle, Bakker, Marian K., Bianca, Sebastiano, Canessa Tapia, Maria Aurora, Castilla, Eduardo E., CsákySzunyogh, Melinda, Dastgiri, Saeed, Feldkamp, Marcia L., Gatt, Miriam, Hirahara, Fumiki, Landau, Danielle, Lowry, R. Brian, Marengo, Lisa, McDonnell, Robert, Mathew, Triphti M., Morgan, Margery, Mutchinick, Osvaldo M., Pierini, Anna, Poetzsch, Simone, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Sípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Vollset, Stein Emil, Wertelecki, Wladimir, Zhuchenko, Ludmila, Mastroiacovo, Pierpaolo
Publikováno v:
American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1670-1680, 11p
Autor:
Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.
Publikováno v:
American Journal of Medical Genetics. Part A; June 2010, Vol. 152 Issue: 6 p1411-1419, 9p
Autor:
Doherty, Emily S., Lacbawan, Felicitas, Hadley, Donald W., Brewer, Carmen, Zalewski, Christopher, Kim, H. Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L., Hart, Thomas C., Brooks, Brian P., Immken, LaDonna, Lowry, R. Brian, Kimonis, Virginia, Shanske, Alan L., Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald‐McGinn, Donna, Zackai, Elaine H., Muenke, Maximilian
Publikováno v:
American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p3204-3215, 12p
Autor:
Sapp, Julie C., Turner, Joyce T., van de Kamp, Jiddeke M., van Dijk, Fleur S., Lowry, R. Brian, Biesecker, Leslie G.
Publikováno v:
American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p2944-2958, 15p
Publikováno v:
American Journal of Medical Genetics. Part A; June 2007, Vol. 143 Issue: 11 p1227-1230, 4p
Autor:
Thomas MA; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada; Departments of Pediatrics and Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Bedard T; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada., Crawford S; Alberta Perinatal Health Program, Alberta Health Services, Calgary, Alberta, Canada., Grevers X; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada., Lowry RB; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada; Departments of Pediatrics and Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2023 Oct; Vol. 261, pp. 113528. Date of Electronic Publication: 2023 Jun 01.
Autor:
Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA., Maheshwari M; Department of Pediatric Radiology, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA., Capasso J; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Golisano Children's Hospital and University of Rochester, Rochester, New York, USA., Atilla H; Department of Ophthalmology, School of Medicine, Ankara University, Ankara, Turkey., Dudakova L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Thompson S; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA., Zitano L; Department of Medical Genetics, Spectrum Health, Grand Rapids, Michigan, USA., Lay-Son G; Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Lowry RB; Department of Clinical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Black J; Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lee J; Department of Family Medicine, McMaster University, Hamilton, Ontario, Canada., Shue A; Byers Eye Institute, Department of Ophthalmology, Stanford University and Stanford Children's Health, Stanford, California, USA., Kremlikova Pourova R; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Skalicka P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jedlickova J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Trkova M; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic., Williams B; GeneDx, Gaithersburg, Maryland, USA., Richard G; GeneDx, Gaithersburg, Maryland, USA., Bachman K; Department of Pediatrics, Geisinger Medical Center, Danville, Pennsylvania, USA., Seeley AH; Department of Pediatrics, Geisinger Medical Center, Danville, Pennsylvania, USA., Costakos D; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Glaser TM; Department of Cell Biology and Human Anatomy, UC-Davis School of Medicine, Davis, California, USA., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Golisano Children's Hospital and University of Rochester, Rochester, New York, USA., Liskova P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA esemina@mcw.edu.; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Apr; Vol. 60 (4), pp. 368-379. Date of Electronic Publication: 2022 Jul 26.
Autor:
Machiraju P; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Cardiac Sciences and Libin Cardiovascular Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Degtiarev V; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Cardiac Sciences and Libin Cardiovascular Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Patel D; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Hazari H; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Lowry RB; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Congenital Anomalies Surveillance System, Calgary, Alberta, Canada., Bedard T; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Congenital Anomalies Surveillance System, Calgary, Alberta, Canada., Sinasac D; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada., Brundler MA; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada.; Department of Pathology & Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Greenway SC; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Cardiac Sciences and Libin Cardiovascular Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Khan A; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Metabolics and Genetics in Calgary (M.A.G.I.C.) Clinic Ltd., Calgary, Alberta, Canada.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 366-376. Date of Electronic Publication: 2021 Oct 07.