Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rzasa, Jessica"'
Autor:
Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1643-1655
Autor:
Trajkova, Slavica, Kerkhof, Jennifer, Rossi Sebastiano, Matteo, Pavinato, Lisa, Ferrero, Enza, Giovenino, Chiara, Carli, Diana, Di Gregorio, Eleonora, Marinoni, Roberta, Mandrile, Giorgia, Palermo, Flavia, Carestiato, Silvia, Cardaropoli, Simona, Pullano, Verdiana, Rinninella, Antonina, Giorgio, Elisa, Pippucci, Tommaso, Dimartino, Paola, Rzasa, Jessica, Rooney, Kathleen, McConkey, Haley, Petlichkovski, Aleksandar, Pasini, Barbara, Sukarova-Angelovska, Elena, Campbell, Christopher M., Metcalfe, Kay, Jenkinson, Sarah, Banka, Siddharth, Mussa, Alessandro, Ferrero, Giovanni Battista, Sadikovic, Bekim, Brusco, Alfredo
Publikováno v:
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Autor:
Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Autor:
Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Publikováno v:
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Akademický článek
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Autor:
Reyes-Múgica, Miguel, Meyerhardt, Jeffrey A, Rzasa, Jessica, Rimm, David L, Johnson, Keith R, Wheelock, Margaret J, Reale, Michael A
Publikováno v:
In Laboratory Investigation 1 February 2001 81(2):201-210
Autor:
Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE., Fusaro V; Invitae, San Francisco, CA, US., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, US., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Humberson J; University of Virginia Health System, Charlottesville, VA, US., Napier MP; GeneDx, Gaithersburg, MD, US., Hoffman J; GeneDx, Gaithersburg, MD, US., Juusola J; GeneDx, Gaithersburg, MD, US., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US., Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US., Rothfelder K; Zentrum für Humangenetik, Tübingen, DE., Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Hilton S; Manchester University, Manchester, UK., Banka S; Manchester University, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE., Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.