학술논문
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'학술논문'
에서 검색결과 44건 | 목록
1~20
Academic Journal
Peddibhotla, Sirisha; Nagamani, Sandesh CS; Erez, Ayelet; Hunter, Jill V; Holder Jr, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene MF; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W
Academic Journal
Expert Review of Molecular Diagnostics; Jun2018, Vol. 18 Issue 6, p531-542, 12p
Academic Journal
Patel, Ankita ; Wang, Rui-Yu ; Hixson, Patricia ; Li, Jian ; Milosavljevic, Aleksandar ; Kantarjian, Hagop M ; Cheung, Sau w ; Andreeff, Michael
In Blood 16 November 2008 112(11):4869-4869
Academic Journal
Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Wincent J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Eisfeldt J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet, Solna, Sweden.; Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Ottosson J; Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Lovmar L; Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Gacic J; Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.; Lundberg ES; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nilsson D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet, Solna, Sweden.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute, Seattle, Washington, USA.; Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
Patel, Ankita; Kang, Sung-Hae; Lennon, Patrick Alan; Li, Yin Feng; Rao, P. Nagesh; Abruzzo, Lynne; Shaw, Chad; Chinault, Alan Craig; Cheung, Sau W
American Journal of Hematology; Jul2008, Vol. 83 Issue 7, p540-546, 7p
Academic Journal
Ishibashi, Minaka; Manning, Elizabeth; Shoubridge, Cheryl; Krecsmarik, Monika; Hawkins, Thomas A; Giacomotto, Jean; Zhao, Ting; Mueller, Thomas; Bader, Patricia I; Cheung, Sau W; Stankiewicz, Pawel; Bain, Nicole L; Hackett, Anna; Reddy, Chilamakuri C S; Mechaly, Alejandro S; Peers, Bernard; Wilson, Stephen W; Lenhard, Boris; Bally-Cuif, Laure; Gecz, Jozef; Becker, Thomas S; Rinkwitz, Silke
Human Genetics. 134:1163-1182
Academic Journal
In Fertility and Sterility 2002 78 Supplement 1:S182-S182
Academic Journal
Bornstein E; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Lenox Hill Hospital, Northwell Health, New York City, New York.; Gulersen M; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Lenox Hill Hospital, Northwell Health, New York City, New York.; Krantz D; Eurofins NTD, Melville, New York.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Maliszewski K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Divon MY; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Lenox Hill Hospital, Northwell Health, New York City, New York.
Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
Academic Journal
Cheung, Sau W; Shaw, Chad A; Yu, Wei; Li, Jiangzham; Ou, Zhishuo; Patel, Ankita; Yatsenko, Svetlana A; Cooper, Mitchell L; Furman, Patti; Stankiewicz, Pawal; Lupski, James R; Chinault, A Craig; Beaudet, Arthur L
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 7(6):422-432
Academic Journal
Jiang YH; Department of Pediatrics and Neurobiology, Duke University School of Medicine , Durham, NC , USA .; Wang Y; Xiu X; Choy KW; Pursley AN; Cheung SW
Publisher: Informa Healthcare Country of Publication: England NLM ID: 8914816 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-781X (Electronic) Linking ISSN: 10408363 NLM ISO Abbreviation: Crit Rev Clin Lab Sci Subsets: MEDLINE
Academic Journal
Jorgez CJ; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America.; Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, United States of America.; Wilken NR; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America.; Vangapandu HV; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America.; Sahin A; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America.; Pham D; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America.; Carvalho CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Bandholz A; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, United States of America.; Miller A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.; Burton B; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States of America.; Babu D; University of Alberta, Edmonton, Alberta, Canada.; Bamforth JS; University of Alberta, Edmonton, Alberta, Canada.; Wilks T; Madigan Army Medical Center, Department of Pediatrics, Tacoma, Washington, United States of America.; Flynn DP; Department of Children's Endocrinology, St. Luke's Children's Specialty Center, Boise, Idaho, United States of America.; Roeder E; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, United States of America.; Patel A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.; Lamb DJ; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Peddibhotla S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics-Hematology-Oncology, Baylor College of Medicine and Texas Children's Cancer Center, Houston, Texas.; Khalifa M; Probst FJ; Stein J; Harris LL; Kearney DL; Vance GH; Bull MJ; Grange DK; Scharer GH; Kang SH; Stankiewicz P; Bacino CA; Cheung SW; Patel A
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
Academic Journal
Lalani SR; Department of Molecular and Human Genetics.; Ware SM; Wang X; Zapata G; Tian Q; Franco LM; Jiang Z; Bucasas K; Scott DA; Campeau PM; Hanchard N; Umaña L; Cast A; Patel A; Cheung SW; McBride KL; Bray M; Craig Chinault A; Boggs BA; Huang M; Baker MR; Hamilton S; Towbin J; Jefferies JL; Fernbach SD; Potocki L; Belmont JW
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Eble TN; Hixson PM; Roney EK; Cheung SW; Franco LM
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
Academic Journal
Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Boone PM; Sampath S; Williams C; Bader PI; Mueller JM; Shchelochkov OA; Brown CW; Crawford HP; Phalen JA; Tartaglia NR; Evans P; Campbell WM; Tsai AC; Parsley L; Grayson SW; Scheuerle A; Luzzi CD; Thomas SK; Eng PA; Kang SH; Patel A; Stankiewicz P; Cheung SW
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Breman A; Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pursley AN; Hixson P; Bi W; Ward P; Bacino CA; Shaw C; Lupski JR; Beaudet A; Patel A; Cheung SW; Van den Veyver I
Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
Mucha BE; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.; Ajeawung NF; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.; Molidperee S; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.; Chen GG; Department of Psychiatry, McGill University, Montreal, QC, Canada.; Koenig MK; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.; Adejumo RB; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.; Till M; Service de Génétique CHU de Lyon-GH Est, Lyon, France.; Harbord M; Department of Pediatrics, Flinders Medical Centre, Bedford Park, SA, Australia.; Perrier R; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Lemyre E; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada.; Boucher RM; Department of Pediatrics, CHU Laval, Quebec City, QC, Canada.; Skotko BG; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Waxler JL; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Thomas MA; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.; Nicholl J; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.; McGregor L; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.; Linden T; Klinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.; Chalfont Centre for Epilepsy, Bucks, United Kingdom.; Sanlaville D; Service de Génétique CHU de Lyon-GH Est, Lyon, France.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Ernst C; Department of Psychiatry, McGill University, Montreal, QC, Canada.; Campeau PM; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada. p.campeau@umontreal.ca.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE
Academic Journal
Mucha BE; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.; Ajeawung NF; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.; Molidperee S; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.; Chen GG; Department of Psychiatry, McGill University, Montreal, QC, Canada.; Koenig MK; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.; Adejumo RB; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.; Till M; Service de Génétique CHU de Lyon-GH Est, Lyon, France.; Harbord M; Department of Pediatrics, Flinders Medical Centre, Bedford Park, SA, Australia.; Perrier R; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Lemyre E; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada.; Boucher RM; Department of Pediatrics, CHU Laval, Quebec City, QC, Canada.; Skotko BG; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Waxler JL; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Thomas MA; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.; Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.; Nicholl J; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.; McGregor L; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.; Linden T; Klinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.; Chalfont Centre for Epilepsy, Bucks, United Kingdom.; Sanlaville D; Service de Génétique CHU de Lyon-GH Est, Lyon, France.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Ernst C; Department of Psychiatry, McGill University, Montreal, QC, Canada.; Campeau PM; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada. p.campeau@umontreal.ca.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Academic Journal
Ou Z; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T821, Houston, TX 77030, USA.; Jarmuz M; Sparagana SP; Michaud J; Décarie JC; Yatsenko SA; Nowakowska B; Furman P; Shaw CA; Shaffer LG; Lupski JR; Chinault AC; Cheung SW; Stankiewicz P
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
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