부산대학교 도서관

Sentell, Zachary T; Mougharbel, Lina; Nurcombe, Zachary W; Babayeva, Sima; Henein, Marc; Chu, Lee Lee; Akpa, Murielle M; Chung, Chen-Fang; Rivière, Jean-Baptiste; Pupavac, Mihaela; Li, Rui; Rosenblatt, David S; Majewski, Jacek; Goodyer, Paul R; Torban, Elena; Kitzler, Thomas M

Human Molecular Genetics; 2/15/2025, Vol. 34 Issue 4, p368-380, 13p

Nguyen TA; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Lin JG; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Marques AMC; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; Fottner M; Laboratory for Organic Chemistry (LOC), Department of Chemistry and Applied Biosciences (D-CHAB), ETH Zurich, Zurich, Switzerland.; Bauer LG; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; Reicher A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Daum D; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Scrofani L; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Liu Y; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; Cheng C; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; D'Angelo L D D L; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Sanchez J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Bueschl C; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Marella N; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Buphamalai P; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna, Austria.; Traversi F; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Bereš M; Institute of Pharmacology, Center of Physiology and Pharmacology & Comprehensive Cancer Center (CCC), Medical University of Vienna, Vienna, Austria.; Moll HP; Institute of Pharmacology, Center of Physiology and Pharmacology & Comprehensive Cancer Center (CCC), Medical University of Vienna, Vienna, Austria.; Siklos M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Genger JW; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Hofstaetter G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Villanti L; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Malik M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Klimek C; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Runggatscher K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Guertl B; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Hansen JS; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; Dobner S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Babosova O; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Becirovic T; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; de Rooij LPMH; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Casanova E; Institute of Pharmacology, Center of Physiology and Pharmacology & Comprehensive Cancer Center (CCC), Medical University of Vienna, Vienna, Austria.; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria.; Koren A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Canada.; Klavins K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Bergthaler A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Institute for Hygiene and Applied Immunology, Center of Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.; Menche J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna, Austria.; Hannich JT; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Abele M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Sdelci S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Center for Genomic Regulation, Barcelona, Spain.; Lang K; Laboratory for Organic Chemistry (LOC), Department of Chemistry and Applied Biosciences (D-CHAB), ETH Zurich, Zurich, Switzerland.; Huber KVM; Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Target Discovery Institute, Nuffield Department of Medicine, Oxford, UK.; Kubicek S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Fillon-Emery, Nathalie ; Chango, Abalo ; Mircher, Clotilde ; Barbé, Françoise ; Bléhaut, Henri ; Herbeth, Bernard ; Rosenblatt, David S ; Réthoré, Marie-Odile ; Lambert, Daniel ; Nicolas, Jean Pierre

In The American Journal of Clinical Nutrition December 2004 80(6):1551-1557

Watkins D; Department of Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: david.watkins@mcgill.ca.; Zacharias C; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Arbabian-Urquilla K; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Ragupathi K; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Gilfix BM; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Jimenez D; Bioinformatics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Anastasio N; Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Canada.; Rivière JB; CartaGene, Montreal, Quebec, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Chu, Jordan ; Pupavac, Mihaela ; Watkins, David ; Tian, Xia ; Feng, Yanming ; Chen, Stella ; Fenter, Remington ; Zhang, Victor W ; Wang, Jing ; Wong, Lee-Jun ; Rosenblatt, David S

In Molecular Genetics and Metabolism March 2017 120(3):295-295

Rashka, Charif; Hergalant, Sébastien; Dreumont, Natacha; Oussalah, Abderrahim; Camadro, Jean-Michel; Marchand, Virginie; Hassan, Ziad; Baumgartner, Matthias R; Rosenblatt, David S; Feillet, François; Guéant, Jean-Louis; Flayac, Justine; Coelho, David

Human Molecular Genetics; 6/15/2020, Vol. 29 Issue 12, p1969-1985, 17p

Langleben D; Center for Pulmonary Vascular Disease, Division of Cardiology, Jewish General Hospital, McGill University, Montreal, QC, Canada; Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC, Canada. Electronic address: david.langleben@mcgill.ca.; Lesenko L; Center for Pulmonary Vascular Disease, Division of Cardiology, Jewish General Hospital, McGill University, Montreal, QC, Canada.; Fox BD; Division of Pulmonary Medicine, Yitzhak Shamir Hospital and Tel Aviv University, Tzrifin, Israel.; Eintracht S; Division of Medical Biochemistry, Jewish General Hospital, McGill University, Montreal, QC, Canada.; Foulkes WD; Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC, Canada; Division of Medical Genetics, Jewish General Hospital, McGill University, Montreal, QC, Canada.; Rosenblatt DS; Division of Medical Genetics, Jewish General Hospital, McGill University, Montreal, QC, Canada.

Publisher: Elsevier Country of Publication: United States NLM ID: 0231335 Publication Model: Print Cited Medium: Internet ISSN: 1931-3543 (Electronic) Linking ISSN: 00123692 NLM ISO Abbreviation: Chest Subsets: MEDLINE

Bidla, Gawa; Watkins, David; Chéry, Céline; Froese, D Sean; Ells, Courtney; Kerachian, Matin; Saskin, Avi; Christensen, Karen E; Gilfix, Brian M; Guéant, Jean-Louis; Rosenblatt, David S

Molecular Genetics and Metabolism. 130:179-182

Harding, Cary O; Pillers, De-Ann M; Steiner, Robert D; Bottiglieri, Teodoro; Rosenblatt, David S; Debley, Jason; Michael Gibson, K

Journal of Perinatology. Jul2003, Vol. 23 Issue 5, p384. 3p.

Guéant JL; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France. jean-louis.gueant@univ-lorraine.fr.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54000, Nancy, France. jean-louis.gueant@univ-lorraine.fr.; Siblini Y; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France.; Chéry C; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54000, Nancy, France.; Schmitt G; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54000, Nancy, France.; Guéant-Rodriguez RM; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54000, Nancy, France.; Coelho D; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France.; Watkins D; Department of Human Genetics, McGill University and Research Institute, McGill University Health Centre, Montreal, QC, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University and Research Institute, McGill University Health Centre, Montreal, QC, Canada.; Oussalah A; INSERM, UMR_S1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, 54000, Vandoeuvre-lès-Nancy, France.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54000, Nancy, France.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Pangilinan F; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Watkins D; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Bernard D; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Chen Y; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; Dong N; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; MOH Key Laboratory of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China.; Wu Q; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; Ozel-Abaan H; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Kaur M; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.; Morrissey M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.; Browne ML; Birth Defects Registry, New York State Department of Health, Albany, New York and University at Albany School of Public Health, Rensselaer, New York, USA.; Mills JL; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Van Ryzin C; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Shchelochkov O; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Sloan J; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Venditti CP; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.; Sarafoglou K; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Rosenblatt DS; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.; Brody LC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Kripps KA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.; Sremba L; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Larson AA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Van Hove JLK; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Nguyen H; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Wright EL; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Mirsky DM; Department of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, Colorado, USA.; Watkins D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Ketteridge D; Department of Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Berry SA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.; McCandless SE; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Baker PR 2nd; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Chern T; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Graduate Program in Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Achilleos A; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. achilleos.a@unic.ac.cy.; Department of Basic and Clinical Sciences, University of Nicosia Medical School, Nicosia, Cyprus. achilleos.a@unic.ac.cy.; Tong X; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Hill MC; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Graduate Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Saltzman AB; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Reineke LC; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chaudhury A; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Dasgupta SK; Department of Pathology, Center for Translational Research on Inflammatory Diseases, Michael E. DeBakey Veterans Affairs Medical Center, Houston, TX, 77030, USA.; Redhead Y; The Francis Crick Institute, London, NW1 1AT, UK.; Centre for Craniofacial Biology and Regeneration, King's College London, London, SE1 9RT, UK.; Watkins D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Neilson JR; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Graduate Program in Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Development, Disease Models and Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX, 77030, USA.; Thiagarajan P; Department of Pathology, Center for Translational Research on Inflammatory Diseases, Michael E. DeBakey Veterans Affairs Medical Center, Houston, TX, 77030, USA.; Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.; Green JBA; Centre for Craniofacial Biology and Regeneration, King's College London, London, SE1 9RT, UK.; Malovannaya A; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Martin JF; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Graduate Program in Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.; Graduate Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Development, Disease Models and Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Heart Institute, Houston, TX, 77030, USA.; Rosenblatt DS; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Poché RA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. poche@bcm.edu.; Graduate Program in Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. poche@bcm.edu.; Graduate Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA. poche@bcm.edu.; Development, Disease Models and Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX, 77030, USA. poche@bcm.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Demaret T; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.; Bédard K; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Laboratoire de Diagnostic Moléculaire, Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada; Département de Pathologie et Biologie Cellulaire, Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada.; Soucy JF; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.; Watkins D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Allard P; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Department of Biochemistry, CHU Sainte-Justine, Montréal, Québec, Canada.; Levtova A; Service de Médecine Génique, Département de Médecine, Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada.; O'Brien A; Service de Médecine Génique, Département de Médecine, Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada.; Brunel-Guitton C; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Mitchell GA; Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. Electronic address: grant.mitchell.med@ssss.gouv.qc.ca.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Bidla G; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Divisions of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Gilfix BM; Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101693884 Publication Model: Print Cited Medium: Print ISSN: 2576-9456 (Print) Linking ISSN: 24757241 NLM ISO Abbreviation: J Appl Lab Med Subsets: MEDLINE

Lerner-Ellis, Jordan; Wang, Marina; White, Shana; Lebo, Matthew S; Agatep, Ron; Ainsworth, Peter; Akbari, Mohammad R; Aronson, Melyssa; Bader, Gary D; Basran, Raveen; Blavier, Andre; Blumenthal, Andrea; Buckley, Kathleen; Campbell, Jodi; Campeau, Philippe M; Care, Melanie; Carson, Nancy; Carter, Ronald; Charames, George; Chitayat, David; Chong, George; Chouinard, Edmond; Chun, Kathy; Craddock, Kenneth J; Docking, Rod; Eisen, Andrea; Faghfoury, Hanna; Farrell, Sandra; Feilotter, Harriet; Fernandez, Bridget; Forster-Gibson, Cynthia; Foulkes, William; Hegele, Robert; Holter, Spring; Horsburgh, Sheri; Hughes, Lauren; Hume, Stacey; Jewett, Franny; Karsan, Aly; Khalouei, Sam; Knoll, Joan; Kolomeitz, Elena; Maire, Georges; Marshall, Christian; McCready, Elizabeth; Moorhouse, Michael J; Morel, Chantal; Nelson, Tanya; OʼConnor, Brian; Ouellette, Francis; Parboosingh, Jillian; Ray, Peter; Rehm, Heidi; Riddell, Christie; Rosenblatt, David S; Ruchon, Andrea; Sadikovic, Bekim; Semotiuk, Kara; Scherer, Stephen W; Shuman, Cheryl; Silver, Josh; Siminovitch, Katherine; Solomon-Izsak, Lesley; Speevak, Marsha; Stavropoulos, James; Stein, Lincoln; Tannenbaum, Rhonda; Terespolsky, Deborah; Wintle, Richard F; Wong, Beatrix; Wong, Nora; Waye, John S; Woods, Michael O; Wyatt, Philip; Young, Sean

Journal of Medical Genetics. Jul 01, 2015 52(7):438-445

Bauer WG; Department of Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Watkins D; Department of Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: david.watkins@mcgill.ca.; Zacharias C; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Gilfix BM; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Quintana, Anita M; Yu, Hung-Chun; Brebner, Alison; Pupavac, Mihaela; Geiger, Elizabeth A; Watson, Abigail; Castro, Victoria L; Cheung, Warren; Chen, Shu-Huang; Watkins, David; Pastinen, Tomi; Skovby, Flemming; Appel, Bruce; Rosenblatt, David S; Shaikh, Tamim H

Human Molecular Genetics. 26:2838-2849

Gupta, Indra Rani; Baldwin, Cindy; Auguste, David; Ha, Kevin C H; El Andalousi, Jasmine; Fahiminiya, Somayyeh; Bitzan, Martin; Bernard, Chantal; Akbari, Mohammad Reza; Narod, Steven A; Rosenblatt, David S; Majewski, Jacek; Takano, Tomoko

Journal of Medical Genetics. May 01, 2013 50(5):330-338

Alfares, Ahmed; Nunez, Laura Dempsey; Al-Thihli, Khalid; Mitchell, John; Melançon, Serge; Anastasio, Natascia; Ha, Kevin C H; Majewski, Jacek; Rosenblatt, David S; Braverman, Nancy

Journal of Medical Genetics. Sep 01, 2011 48(9):602-605