검색어 : 통합검색[David J. Berghuis]
총 19건 중 19건 출력
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- Germline Missense Variants in <i>CDC20</i> Result in Aberrant Mitotic Progression and Familial Cancer
- Chen, Owen J.; Castellsagué , Ester; Moustafa-Kamal, Mohamed; Nadaf, Javad; Rivera, Barbara; Fahiminiya, Somayyeh; Wang, Yilin; Gamache, Isabelle; Pacifico, Caterina; Jiang, Lai; Carrot-Zhang, Jian; Witkowski, Leora; Berghuis, Albert M.; Schö nberger, Stefan; Schneider, Dominik; Hillmer, Morten; Bens, Susanne; Siebert, Reiner; Stewart, Colin J.R.; Zhang, Ziguo; Chao, William C.H.; Greenwood, Celia M.T.; Barford, David; Tischkowitz, Marc; Majewski, Jacek; Foulkes, William D.; Teodoro, Jose G.; ; (Cancer research : the official organ of the American Association for Cancer Research, Inc, v.82, 2022, pp.3499-3515)
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- Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
- Rivera, Barbara; Gayden, Tenzin; Carrot-Zhang, Jian; Nadaf, Javad; Boshari, Talia; Faury, Damien; Zeinieh, Michele; Blanc, Romeo; Burk, David L.; Fahiminiya, Somayyeh; Bareke, Eric; Schü ller, Ulrich; Monoranu, Camelia M.; Strä ter, Ronald; Kerl, Kornelius; Niederstadt, Thomas; Kurlemann, Gerhard; Ellezam, Benjamin; Michalak, Zuzanna; Thom, Maria; Lockhart, Paul J.; Leventer, Richard J.; Ohm, Milou; MacGregor, Duncan; Jones, David; Karamchandani, Jason; Greenwood, Celia M. T.; Berghuis, Albert M.; Bens, Susanne; Siebert, Reiner; Zakrzewska, Magdalena; Liberski, Pawel P.; Zakrzewski, Krzysztof; Sisodiya, Sanjay M.; Paulus, Werner; Albrecht, Steffen; Hasselblatt, Martin; Jabado, Nada; Foulkes, William D.; Majewski, Jacek; ; (Acta neuropathologica, v.131, 2016, pp.847-863)
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- <i>IRF8</i>Mutations and Human Dendritic-Cell Immunodeficiency
- Hambleton, Sophie; Salem, Sandra; Bustamante, Jacinta; Bigley, Venetia; Boisson-Dupuis, Sté phanie; Azevedo, Joana; Fortin, Anny; Haniffa, Muzlifah; Ceron-Gutierrez, Lourdes; Bacon, Chris M.; Menon, Geetha; Trouillet, Cé line; McDonald, David; Carey, Peter; Ginhoux, Florent; Alsina, Laia; Zumwalt, Timothy J.; Kong, Xiao-Fei; Kumararatne, Dinakantha; Butler, Karina; Hubeau, Marjorie; Feinberg, Jacqueline; Al-Muhsen, Saleh; Cant, Andrew; Abel, Laurent; Chaussabel, Damien; Doffinger, Rainer; Talesnik, Eduardo; Grumach, Anete; Duarte, Alberto; Abarca, Katia; Moraes-Vasconcelos, Dewton; Burk, David; Berghuis, Albert; Geissmann, Fré dé ric; Collin, Matthew; Casanova, Jean-Laurent; Gros, Philippe; ; (The New England journal of medicine, v.365, 2011, pp.127-138)
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- Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma
- Rivera, Barbara; Di Iorio, Massimo; Frankum, Jessica; Nadaf, Javad; Fahiminiya, Somayyeh; Arcand, Suzanna L.; Burk, David L.; Grapton, Damien; Tomiak, Eva; Hastings, Valerie; Hamel, Nancy; Wagener, Rabea; Aleynikova, Olga; Giroux, Sylvie; Hamdan, Fadi F.; Dionne-Laporte, Alexandre; Zogopoulos, George; Rousseau, Francois; Berghuis, Albert M.; Provencher, Diane; Rouleau, Guy A.; Michaud, Jacques L.; Mes-Masson, Anne-Marie; Majewski, Jacek; Bens, Susanne; Siebert, Reiner; Narod, Steven A.; Akbari, Mohammad R.; Lord, Christopher J.; Tonin, Patricia N.; Orthwein, Alexandre; Foulkes, William D.; Department of Human Genetics, McGill University, Montreal, Canada.; Department of Human Genetics, McGill University, Montreal, Canada.; The CRUK Gene Function Laboratory and Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, United Kingdom.; Department of Human Genetics, McGill University, Montreal, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.; Department of Biochemistry, McGill University, Montreal, Canada.; Lady Davis Institute, Montreal, Canada.; Department of Genetics, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.; Department of Genetics, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.; Institute of Human Gene; (Cancer research : the official organ of the American Association for Cancer Research, Inc, v.77, 2017, pp.4517-4529)
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- Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
- Stevelink, Remi; Luykx, Jurjen J.; Lin, Bochao D.; Leu, Costin; Lal, Dennis; Smith, Alexander W.; Schijven, Dick; Carpay, Johannes A.; Rademaker, Koen; Rodrigues Baldez, Roiza A.; Devinsky, Orrin; Braun, Kees P. J.; Jansen, Floor E.; Smit, Dirk J. A.; Koeleman, Bobby P. C.; Abou‐ Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; de Haan, Gerrit‐ Jan; De Jonghe, Peter; de Kovel, Carolien G. F.; Delanty, Norman; Depondt, Chantal; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson; Department of Genetics, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachussets, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachussets, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachussets, USA; Department of Psychiatry, UMC Utrecht Brain Center, University; (Epilepsia : the journal of the International League against Epilepsy, v.62, 2021, pp.1518-1527)
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- Histone H3.3G34-Mutant Interneuron Progenitors Co-opt <i>PDGFRA</i> for Gliomagenesis
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Chen, Carol C.L.;
Deshmukh, Shriya;
Jessa, Selin;
Hadjadj, Djihad;
Lisi, Vé
ronique;
Andrade, Augusto Faria;
Faury, Damien;
Jawhar, Wajih;
Dali, Rola;
Suzuki, Hiromichi;
Pathania, Manav;
A, Deli;
Dubois, Frank;
Woodward, Eleanor;
Hé
bert, Steven;
Coutelier, Marie;
Karamchandani, Jason;
Albrecht, Steffen;
Brandner, Sebastian;
De Jay, Nicolas;
Gayden, Tenzin;
Bajic, Andrea;
Harutyunyan, Ashot S.;
Marchione, Dylan M.;
Mikael, Leonie G.;
Juretic, Nikoleta;
Zeinieh, Michele;
Russo, Caterina;
Maestro, Nicola;
Bassenden, Angelia V.;
Hauser, Peter;
Virga, Jó
zsef;
Bognar, Laszlo;
Klekner, Almos;
Zapotocky, Michal;
Vicha, Ales;
Krskova, Lenka;
Vanova, Katerina;
Zamecnik, Josef;
Sumerauer, David;
Ekert, Paul G.;
Ziegler, David S.;
Ellezam, Benjamin;
Filbin, Mariella G.;
Blanchette, Mathieu;
Hansford, Jordan R.;
Khuong-Quang, Dong-Anh;
Berghuis, Albert M.;
Weil, Alexander G.;
Garcia, Benjamin A.;
Garzia, Livia;
Mack, Stephen C.;
Department of Human Genetics, McGill University;
Division of Experimental Medicine, Department of Medicine, McGill University;
Quantitative Life Sciences, McGill University;
Department of Human Genetics, McGill University;
Department of Human Genetics, McGill University;
Department of Human Genetics, McGill University;
Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre;
Department of Human Genetics, McGill University;
Canadian Centre for Computational Genomics, McGill University;
Developmental and Stem Cell Biology Program, The Hospital for Sick Children;
Department of Oncology and The Milner Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge
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- <i>Chinese Art and Its Encounter with the World</i>, by David Clarke. Hong Kong: Hong Kong University Press, 2011. x + 259 pp. HK$300.00/US$40.00 (hardcover).
- Berghuis, Thomas J.; ; (The China journal = 中國硏究, v.70, 2013, pp.273-274)
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- Seasonal Human Coronavirus Respiratory Tract Infection in Recipients of Allogeneic Hematopoietic Stem Cell Transplantation
- Piñ ana, Jose Luis; Xhaard, Alié nor; Tridello, Gloria; Passweg, Jakob; Kozijn, Anne; Polverelli, Nicola; Heras, Inmaculada; Perez, Ariadna; Sanz, Jaime; Berghuis, Dagmar; Vá zquez, Lourdes; Suá rez-Lledó , Marí a; Itä la-Remes, Maija; Ozcelik, Tulay; Iturrate Basará n, Isabel; Karakukcu, Musa; Al Zahrani, Mohsen; Choi, Goda; Cuesta Casas, Mariá n Angeles; Batlle Massana, Montserrat; Viviana, Amato; Blijlevens, Nicole; Ganser, Arnold; Kuskonmaz, Baris; Labussiè re-Wallet, Hé lè ne; Shaw, Peter J; Yegin, Zeynep Arzu; Gonzá lez-Vicent, Marta; Rocha, Vanderson; Ferster, Alina; Knelange, Nina; Navarro, David; Mikulska, Malgorzata; de la Camara, Rafael; Styczynski, Jan; Hematology Division, Hospital Universitario y Polité cnico La Fe, Valencia, Spain; Service d’Hé matologie-Greffe, Hô pital Saint-Louis, Université Paris-Diderot, Paris, France; Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy; University Hospital Basel, Basel, Switzerland; European Society for Blood and Marrow Transplantation Data Office Leiden, Leiden, The Netherlands; Unit of Blood Diseases and Stem Cell Transplantation, University of Brescia Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia, Italy; Hematology Division, Hospital Morales Meseguer, Murcia, Spain; Hematology Division, Hospital Clí nico de Valencia, Valencia, Spain; Hematology Division, Hospital Universitario y Polité cnico La Fe, Valencia, Spain; Willem Alexander Children’s Hospital/Leiden University Medical Center, Leiden, The Netherlands; Hematology Division, Hospital Universitario de Salamanca, Salamanca, Spain; Hematology Divis; (The Journal of infectious diseases : official publication of the Infectious Diseases Society of America, v.223, 2021, pp.1564-1575)
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- Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
- Ghosh, Sujal; Kö stel Bal, Sevgi; Edwards, Emily S. J.; Pillay, Bethany; Jimé nez Heredia, Raú l; Erol Cipe, Funda; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krü ger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; van Montfrans, Joris; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Dü ckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; ; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Dü sseldorf, Germany; ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; ; Department of Pediatric Allergy and Immunology, Istinye University, Istanbul, Turkey; ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; ; Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran; ; Department of Allergy and Clinical Immunology, Child Growth and Developme; (Blood, v.136, 2020, pp.2638-2655)
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