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'학술논문'
에서 검색결과 30건 | 목록
1~20
Academic Journal
Stenton, SL; Tesarova, M; Sheremet, NL; Catarino, C; Carelli, V; Ciara, E; Curry, K; Engvall, M; Fleming, LR; Freisinger, P
BRAIN. 145(5):1624-1631
Academic Journal
Witsch-Baumgartner, M; Ciara, E; Löffler, J; Menzel, H J; Seedorf, U; Burn, J; Gillessen-Kaesbach, G; Hoffmann, G F; Fitzky, B U; Mundy, H; Clayton, P; Kelley, R I; Krajewska-Walasek, M; Utermann, G
Academic Journal
Jezela-Stanek, A; Małunowicz, E M; Ciara, E; Popowska, E; Goryluk-Kozakiewicz, B; Spodar, K; Czerwiecka, M; Jezuita, J; Nowaczyk, M JM; Krajewska-Walasek, M
Clinical Genetics. Jan 01, 2006 69(1):77-85
Academic Journal
Ciara, E; Nowaczyk, M JM; Witsch-Baumgartner, M; Malunowicz, E; Popowska, E; Jezela-Stanek, A; Piotrowicz, M; Waye, J S; Utermann, G; Krajewska-Walasek, M
Clinical Genetics. Dec 01, 2004 66(6):517-524
Academic Journal
Jezela-Stanek, A; Ciara, E; Małunowicz, E; Chrzanowska, K; Latos-Bieleńska, A; Krajewska-Walasek, M; The Smith-Lemli-Opitz syndrome (SLOS) Collaborative Group
Journal of Inherited Metabolic Disease. 33:241-248
Report
Szczałuba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Szymańska K; Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Walczak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Kosińska J; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Jacoszek A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Czerska K; MEDGEN Medical Centre, Warsaw, Poland.; Biernacka A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Laure-Kamionowska M; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.; Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
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
Gawliński P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Pelc M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.; Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.; Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Guilbride DL; Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; Horsch, S; van Karnebeek, C; Yaplito-Lee, J; Distelmaier, F; Õunap, K; Rahman, S; Castelle, M; Kelleher, J; Baris, S; Iwanicka-Pronicka, K; Steward, CG; Ciara, E; Wortmann, SB; Additional individual contributors, .
Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. jezela@gmail.com.
Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland. a.rozdzynska-swiatkowska@ipczd.pl.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. jezela@gmail.com.
Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE
Academic Journal
Piekutowska-Abramczuk D; Department of Medical Genetics.; Pronicki M; Strawa K; Karkucińska-Więckowska A; Szymańska-Dębińska T; Fidziańska A; Więckowski MR; Jurkiewicz D; Ciara E; Jankowska I; Sykut-Cegielska J; Krajewska-Walasek M; Płoski R; Pronicka E
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
Hellerud, C; Adamowicz, M; Jurkiewicz, D; Taybert, J; Kubalska, J; Ciara, E; Popowska, E; Ellis, JR; Lindstedt, S; Pronicka, E
Academic Journal
Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Halat P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Karkucińska-Więckowska A; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Mayr J; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.; Trubicka J; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Szymańska-Dębińska T; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.; Pronicki M; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.; Pajdowska M; Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.; Dudzińska M; Department of Child Neurology, Chorzowskie Centrum Pediatrii i Onkologii, Chorzów, Poland.; Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Książyk J; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Sperl W; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.; Płoski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE
Academic Journal
Jamroz E; Klinika Pediatrii i Neurologii Wieku Rozwojowego, Śląski Uniwersytet Medyczny, ul. Medyków 16, 40-752 Katowice, Polska.; Paprocka J; Sokół M; Popowska E; Ciara E
Publisher: Via Medica Country of Publication: Poland NLM ID: 0101265 Publication Model: Print Cited Medium: Print ISSN: 0028-3843 (Print) Linking ISSN: 00283843 NLM ISO Abbreviation: Neurol Neurochir Pol Subsets: MEDLINE
Academic Journal
Jurecka A; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland. ajurecka@gmail.com; Popowska E; Tylki-Szymanska A; Kubalska J; Ciara E; Krumina Z; Sykut-Cegielska J; Pronicka E
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
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
Academic Journal
Jezela-Stanek A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. jezela@gmail.com ; Ciara E; Malunowicz EM; Korniszewski L; Piekutowska-Abramczuk D; Popowska E; Krajewska-Walasek M
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1769-7212 (Print) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Academic Journal
Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. e.ciara@czd.pl; Popowska E; Piekutowska-Abramczuk D; Jurkiewicz D; Borucka-Mankiewicz M; Kowalski P; Goryluk-Kozakiewicz B; Nowaczyk MJ; Krajewska-Walasek M
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1769-7212 (Print) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Academic Journal
Popowska E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Ciara E; Rokicki D; Pronicka E
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Ciara E; Zakład Genetyki Medycznej IPCZD, Instytut-Pomnik Centrum Zdrowia Dziecka Warszawa-Miedzylesie.
Publisher: Blue Sparks Pub. Group Country of Publication: Poland NLM ID: 100928610 Publication Model: Print Cited Medium: Print NLM ISO Abbreviation: Med Wieku Rozwoj Subsets: MEDLINE
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[AR] Ciara, E
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