학술논문


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'학술논문' 에서 검색결과 45건 | 목록 1~20
Academic Journal
Glinton KE; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.; Adstamongkonkul D; CoxHealth, CoxHealth Pediatric Specialties, Springfield, Missouri, USA.; University of Missouri School of Medicine, Springfield Clinical Campus, Springfield, Missouri, USA.; Schnappauf O; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Brewer C; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Parikh AS; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, Ohio, USA.; Shinde DN; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.; Donaldson A; Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.; Brautbar A; Medical Genetics Department, Cook Children's Hospital, Fort Worth, Texas, USA.; Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Piton A; Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France.; Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris Cedex, France.; Furlan M; Danish Epilepsy Centre, Dianalund, Denmark.; Gardella E; Danish Epilepsy Centre, Dianalund, Denmark.; University of Southern Denmark, Odense, Denmark.; Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; University of Southern Denmark, Odense, Denmark.; van de Beek I; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam, the Netherlands.; Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam, the Netherlands.; Lakeman P; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam, the Netherlands.; Bayat A; Danish Epilepsy Centre, Dianalund, Denmark.; University of Southern Denmark, Odense, Denmark.; Department of Pediatrics, University Hospital of Hvidovre, Copenhagen, Denmark.; Martinez J; Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, California, Los Angeles, USA.; Signer R; Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, California, Los Angeles, USA.; Torring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Engelund MB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Gripp KW; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Amlie-Wolf L; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Henderson LB; GeneDx, Gaithersburg, Maryland, USA.; Midro AT; Department of Clinical Genetics, Medical University, Białystok, 15-089, Białystok, Poland.; Tarasów E; Department of Radiology, Medical University, Bialystok, Poland.; Stasiewicz-Jarocka B; Department of Clinical Genetics, Medical University, Białystok, 15-089, Białystok, Poland.; Moskal-Jasinska D; Department of Clinical Phonoaudiology and Speech Therapy, Medical University, Białystok, Białystok, Poland.; Vos P; Department of Pediatrics, Haga Teaching Hospital, Juliana Children's Hospital, The Hague, The Netherlands.; Boschann F; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Stoltenburg C; Department of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany.; Puk O; Praxis für Humangenetik Tuebingen, Department of Genetic Diagnostics, Tuebingen, Germany.; Mero IL; Department of Medical Genetics, Oslo University Hospital, Norway.; Lossius K; Department of Pediatric and Adolescent Medicine, Akershus University Hospital, Norway.; Mignot C; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Keren B; Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France.; Acosta Guio JC; Especialista en Genética Médica, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Cundinamarca, Colombia.; Briceño I; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia.; Gomez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia.; Yang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.; AiLife Diagnostics, Country Place Pkwy Suite 100, Pearland, Texas, USA.; Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 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
Academic Journal
Ng, B G, Shiryaev, S A, Rymen, D, Eklund, E A, Raymond, K, Kircher, M, Abdenur, J E, Alehan, F, Midro, A T, Bamshad, M J, Barone, R, Berry, G T, Brumbaugh, J E, Buckingham, K J, Clarkson, K, Cole, F S, O'Connor, S, Cooper, G M, Van Coster, R, Demmer, L A, Diogo, L, Fay, A J, Ficicioglu, C, Fiumara, A, Gahl, W A, Ganetzky, R, Goel, H, Harshman, L A, He, M, Jaeken, J, James, P M, Katz, D, Keldermans, L, Kibæk, M, Kornberg, A J, Lachlan, K, Lam, C, Yaplito-Lee, J, Nickerson, D A, Peters, H L, Race, V, Régal, L, Rush, J S, Rutledge, S L, Shendure, J, Souche, E, Sparks, S E, Trapane, P, Sanchez-Valle, A, Vilain, E & University of Washington Center for Mendelian Genomics 2016, ' ALG1-CDG : Clinical and Molecular Characterization of 39 Unreported Patients ', Human Mutation, vol. 37, no. 7, pp. 653-660 . https://doi.org/10.1002/humu.22983
Academic Journal
Midro AT; Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland.; Stasiewicz-Jarocka B; Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland.; Borys J; Department of Maxillo-Facial Surgery, Medical University of Bialystok, Bialystok, Poland.; Hubert E; Department of Maxillo-Facial Surgery, Medical University of Bialystok, Bialystok, Poland.; Skotnicka B; Paediatric Otolaryngology of Clinic, Medical University of Bialystok, Bialystok, Poland.; Hassmann-Poznańska E; Paediatric Otolaryngology of Clinic, Medical University of Bialystok, Bialystok, Poland.; Sierpińska T; Department of Prosthetic Dentistry, Medical University of Bialystok, Bialystok, Poland.; Panasiuk B; Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland.; Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
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
Report
Midro AT; Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland.; Tommerup N; Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.; Borys J; Clinic of Maxillo-Facial Surgery, Medical University, Białystok, Poland.; Panasiuk B; Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland.; Kosztyła-Hojna B; Department of Phonoaudiology and Logopedics, Medical University, Białystok, Poland.; Zalewska R; Department of Ophthalmology, Medical University, Białystok, Poland.; Konstantynowicz J; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University, Białystok, Poland.; Łebkowska U; Department of Radiology, Medical University, Białystok, Poland.; Cooper L; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA.; Scherer SE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.; Liu Q; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Skowroński R; Department of Orthopedics and Traumatology, Medical University of Białystok, Białystok, Poland.; Stankiewicz P; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Olszewska M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.; Wiland E; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.; Huleyuk N; National Academy of Medical Sciences of Ukraine, Institute of Hereditary Pathology, Lysenko Str. 31a, Lviv, 79000, Ukraine.; Fraczek M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.; Midro AT; Department of Clinical Genetics, Medical University of Bialystok, Waszyngtona 13, PO Box 22, 15-089, Bialystok, Poland.; Zastavna D; National Academy of Medical Sciences of Ukraine, Institute of Hereditary Pathology, Lysenko Str. 31a, Lviv, 79000, Ukraine.; Department of Biotechnology and Bioinformatics, Faculty of Chemistry, Rzeszow University of Technology, Al. Powstancow Warszawy 6, 35-959, Rzeszow, Poland.; Kurpisz M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland. kurpimac@man.poznan.pl.
Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Academic Journal
Midro AT; Department of Clinical Genetics, Medical University, Bialystok, Poland.; Stasiewicz-Jarocka B; Department of Clinical Genetics, Medical University, Bialystok, Poland.; Borys J; Clinic of Maxillo-Facial Surgery, Medical University, Bialystok, Poland.; Kozłowski K; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Skotnicka B; Department of Pediatric Otolaryngology, Medical University, Bialystok, Poland.; Tarasów E; Department of Radiology, Medical University, Bialystok, Poland.; Hubert E; Clinic of Maxillo-Facial Surgery, Medical University, Bialystok, Poland.; Konstantynowicz J; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University, Bialystok, Poland.; Panasiuk B; Department of Clinical Genetics, Medical University, Bialystok, Poland.; Rydzanicz M; Department of Medical Genetics, Medical University, Warsaw, Poland.; Pollak A; World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.; Stawiński P; World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.; Skowroński R; Department of Orthopaedics and Traumatology, Medical University, Bialystok, Poland.; Płoski R; Department of Medical Genetics, Medical University, Warsaw, Poland.
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
Midro AT; Department of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland. midro@umb.edu.pl.; Zollino M; Department of Medical Genetics, Università Cattolica Sacro Cuore, Rome, Italy.; Wiland E; Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland.; Panasiuk B; Department of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland.; Iwanowski PS; Department of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland.; Murdolo M; Department of Medical Genetics, Università Cattolica Sacro Cuore, Rome, Italy.; Śmigiel R; Department of Genetics, Medical University of Wrocław, Wrocław, Poland.; Sąsiadek M; Department of Genetics, Medical University of Wrocław, Wrocław, Poland.; Pilch J; Department of Child Neurology, Medical University of Silesia, Katowice, Poland.; Kurpisz M; Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland. kurpimac@man.poznan.pl.
Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE
Academic Journal
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Kowalska A; Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul. Strzeszyńka 32, Poznań. annkowal@rose.man.poznan.pl; Midro ATJanik PGogol ASłużewski WRajewski A
Publisher: Medical Science International Country of Publication: Poland NLM ID: 101206517 Publication Model: Electronic Cited Medium: Internet ISSN: 1732-2693 (Electronic) Linking ISSN: 00325449 NLM ISO Abbreviation: Postepy Hig Med Dosw (Online) Subsets: MEDLINE
Academic Journal
Kowalska A; Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul. Strzeszyńka 32, Poznań. annkowal@rose.man.poznan.pl; Midro ATJanik PGogol ASłużewski WRajewski A
Publisher: Medical Science International Country of Publication: Poland NLM ID: 101206517 Publication Model: Electronic Cited Medium: Internet ISSN: 1732-2693 (Electronic) Linking ISSN: 00325449 NLM ISO Abbreviation: Postepy Hig Med Dosw (Online) Subsets: MEDLINE
Academic Journal
Midro AT; Zakład Genetyki Klinicznej UM w Białymstoku.; Olchowik BLebiedzińska AMidro H
Publisher: Polish Psychiatric Association Country of Publication: Poland NLM ID: 0103314 Publication Model: Print Cited Medium: Print ISSN: 0033-2674 (Print) Linking ISSN: 00332674 NLM ISO Abbreviation: Psychiatr Pol Subsets: MEDLINE
Academic Journal
Midro AT; Zakład Genetyki Klinicznej UM w Białymstoku.; Olchowik BLebiedzińska AMidro H
Publisher: Polish Psychiatric Association Country of Publication: Poland NLM ID: 0103314 Publication Model: Print Cited Medium: Print ISSN: 0033-2674 (Print) Linking ISSN: 00332674 NLM ISO Abbreviation: Psychiatr Pol Subsets: MEDLINE
Academic Journal
Wasilewska EM; Department of Hematology, Medical University of Bialystok, 24A Skłodowskiej-Curie Street, 15-276 Białystok, Poland. Electronic address: emewa79@gmail.com.; Panasiuk B; Department of Clinical Genetics, Medical University of Bialystok, 13 Waszyngtona Street, 15-089 Białystok, Poland.; Gniot M; Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, 84 Szamarzewskiego Street, Poznań, Poland.; Sawicka A; Department of Clinical Genetics, Medical University of Bialystok, 13 Waszyngtona Street, 15-089 Białystok, Poland.; Kozłowska K; Department of Hematology, Medical University of Bialystok, 24A Skłodowskiej-Curie Street, 15-276 Białystok, Poland.; Lewandowski K; Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, 84 Szamarzewskiego Street, Poznań, Poland.; Kłoczko J; Department of Hematology, Medical University of Bialystok, 24A Skłodowskiej-Curie Street, 15-276 Białystok, Poland.; Midro AT; Department of Clinical Genetics, Medical University of Bialystok, 13 Waszyngtona Street, 15-089 Białystok, Poland.
Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE
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[AR] Midro, Alina T
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