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1Academic JournalGenotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
المؤلفون: Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans Christoph, Weis, Denisa
المصدر: Nagy , D , Verheyen , S , Wigby , K M , Borovikov , A , Sharkov , A , Slegesky , V , Larson , A , Fagerberg , C , Brasch-Andersen , C , Kibæk , M , Bader , I , Hernan , R , High , F A , Chung , W K , Schieving , J H , Behunova , J , Smogavec , M , Laccone , F , Witsch-Baumgartner , M , Zobel , J , Duba , H C & Weis , D 2022 , ' Genotype-Phenotype Comparison in POGZ-Related ....
مصطلحات موضوعية: Clinical scoring, Deep facial gestalt analysis, Genotype-phenotype association, Neurodevelopmental disorder, Nonsense-mediated RNA decay, POGZ gene, White-Sutton syndrome
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco
المصدر: European Journal of Human Genetics ; volume 30, issue 4, page 428-438 ; ISSN 1018-4813 1476-5438
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3Academic Journal
المؤلفون: Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.
مصطلحات موضوعية: congenital diarrheal diseases, enteropathy, microvillus inclusion disease, MYO5B, myosin Vb, progressive familial intrahepatic cholestasis, PFIC, genotype–phenotype correlation, lack of protein, tail domain, Diarrhea, Cholestasis, Myosins, Kontraktile Proteine, Cholestase, Durchfall, Myosin
وصف الملف: application/pdf
Relation: http://dx.doi.org/10.18725/OPARU-43530; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5
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4Academic Journal
المؤلفون: El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang
مصطلحات موضوعية: Bone fragility, Type I collagen, Osteogenesis imperfecta, Cryptic splice site, Mutation, Whole exome sequencing
جغرافية الموضوع: vls-obvuli-3396396
وصف الملف: text/html
Relation: vignette : https://epub.jku.at/titlepage/urn/urn:nbn:at:at-ubl:3-18514/128; urn:nbn:at:at-ubl:3-18514; https://resolver.obvsg.at/urn:nbn:at:at-ubl:3-18514; local:99147385653503331; system:AC16848895
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5Academic Journal
المؤلفون: Kuš�ková, Katarína, Feichtinger, René Günther, Csillag, Bernhard, Kalev, Ognian Kostadinov, Weis, Serge, Duba, Hans-Christoph, Mayr, Johannes Adalbert, Weis, Denisa
المصدر: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360
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6Academic Journal
المؤلفون: Duba, Hans-Christoph, Arzt, Wolfgang
المصدر: Medizinische Genetik ; volume 31, issue 3, page 289-296 ; ISSN 1863-5490 0936-5931
الاتاحة: http://dx.doi.org/10.1007/s11825-019-00253-8
http://link.springer.com/content/pdf/10.1007/s11825-019-00253-8.pdf
http://link.springer.com/article/10.1007/s11825-019-00253-8/fulltext.html
https://www.degruyter.com/document/doi/10.1007/s11825-019-00253-8/xml
https://www.degruyter.com/document/doi/10.1007/s11825-019-00253-8/pdf -
7
المؤلفون: Bache, Iben, Van Assche, Elvire, Cingoz, Sultan, Bugge, Merete, Tümer, Zeynep, Hjorth, Mads, Lundsteen, Claes, Lespinasse, James, Winther, Kirsten, Niebuhr, Anita, Kalscheuer, Vera, Liebaers, Inge, Bonduelle, Maryse, Tournaye, Herman, Ayuso, Carmen, Barbi, Gotthold, Blennow, Elisabeth, Bourrouillou, Georges, Brondum-Nielsen, Karen, Bruun-Petersen, Gert, Croquette, Marie-Francoise, Dahoun, Sophie, Dallapiccola, Bruno, Davison, Val, Delobel, Bruno, Duba, Hans-Christoph, Duprez, Laurence, Ferguson-Smith, Malcolm, FitzPatrick, David R, Grace, Elizabeth, Hansmann, Ingo, Hultén, Maj, Jensen, Peter KA, Jonveaux, Philippe, Kristoffersson, Ulf, Lopez-Pajares, Isidora, McGowan-Jordan, Jean, Murken, Jan, Orera, Maria, Parkin, Tony, Passarge, Eberhard, Ramos, Carmen, Rasmussen, Kirsten, Schempp, Werner, Schubert, Regine, Schwinger, Eberhard, Shabtai, Fiorella, Smith, Kim, Stallings, Raymond, Stefanova, Margarita, Tranebjerg, Lisbeth, Turleau, Catherine, van der Hagen, Carl Birger, Vekemans, Michel, Kokalj Vokac, Nadja, Wagner, Klaus, Wahlstroem, Jan, Zelante, Leopoldo, Tommerup, Niels
المصدر: European Journal of Human Genetics. 12(12):993-1000
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8Academic Journal
المؤلفون: Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, de Geus, Christa M., Duba, Hans-Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti-Furga, Andrea, Veenstra-Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.
المصدر: Wade , E M , Jenkins , Z A , Daniel , P B , Morgan , T , Addor , M C , Ades , L C , Bertola , D , Bohring , A , Carter , E , Cho , T-J , de Geus , C M , Duba , H-C , Fletcher , E , Hadzsiev , K , Hennekam , R C M , Kim , C A , Krakow , D , Morava , E , Neuhann , T , Sillence , D , Superti-Furga , A , Veenstra-Knol , H E , ....
مصطلحات موضوعية: Frontometaphyseal dysplasia, keloid, locus heterogeneity, scoliosis, TAB2, TAK1, MUTATIONS, DEFECTS, HUMANS, MAP3K7, FLNA
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C. M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O. M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.
المصدر: Wade , E M , Daniel , P B , Jenkins , Z A , McInerney-Leo , A , Leo , P , Morgan , T , Addor , M C , Ades , L C , Bertola , D , Bohring , A , Carter , E , Cho , T-J , Duba , H-C , Fletcher , E , Kim , C A , Krakow , D , Morava , E , Neuhann , T , Superti-Furga , A , Veenstra-Knol , I , Wieczorek , D , Wilson , L C , Hennekam , R C ....
مصطلحات موضوعية: NF-KAPPA-B, PROTEIN-KINASE PATHWAYS, OSTEOCLAST DIFFERENTIATION, PROLINE HYDROXYLATION, HIF-ALPHA, FILAMIN-A, ACTIVATION, GROWTH, TAB2, BINDING
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/ee18ca76-2bce-467e-880a-1b186e1ee45f
https://research.rug.nl/en/publications/ee18ca76-2bce-467e-880a-1b186e1ee45f
https://doi.org/10.1016/j.ajhg.2016.05.024
https://pure.rug.nl/ws/files/205184706/Mutations_in_MAP3K7_that_Alter_the_Activity_of_the_TAK1_Signaling_Complex_Cause_Frontometaphyseal_Dysplasia_Elsevier_Enhanced_Reader.pdf -
10Academic Journal
المؤلفون: Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N., Rafiq, Muhammad A., Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R., Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B., Windpassinger, Christian, Duba, Hans-Christoph
المصدر: Human Molecular Genetics ; volume 23, issue 15, page 4015-4023 ; ISSN 0964-6906 1460-2083
الاتاحة: http://dx.doi.org/10.1093/hmg/ddu115
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11Academic Journal
المؤلفون: Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R
المصدر: European Journal of Human Genetics ; volume 17, issue 9, page 1154-1159 ; ISSN 1018-4813 1476-5438
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12Academic Journal
المؤلفون: Manvelyan, Marina, Riegel, Mariluce, Santos, Monica, Fuster, Carme, Pellestor, Franck, Mazaurik, Marie-Luise, Schulze, Bernt, Polityko, Anna, Tittelbach, Hanne, Reising-Ackermann, Gisela, Belitz, Britta, Hehr, Ute, Kelbova, Christina, Volleth, Marianne, Gödde, Elisabeth, Anderson, Jasen, Küpferling, Peter, Köhler, Sigrid, Duba, Hans-Christoph, Dufke, Andreas, Aktas, Dilek, Martin, Thomas, Schreyer, Isolde, Ewers, Elisabeth, Reich, Daniela, Mrasek, Kristin, Weise, Anja, Liehr, Thomas
المصدر: Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/57505/1/Manvelyan_et_al,_Thirty-two_new_cases%5D.pdf; info:pmid/18506363; urn:issn:1107-3756
الاتاحة: https://www.zora.uzh.ch/id/eprint/57505/
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13Academic Journal
المؤلفون: Mrasek, Kristin, Reich, Daniela, Ewers, Elisabeth, Schreyer, Isolde, Martin, Thomas, Aktas, Dilek, Dufke, Andreas, Duba, Hans-Christoph, Liehr, Thomas, Weise, Anja, Koehler, Sigrid, Kuepferling, Peter, Anderson, Jasen, Goedde, Elisabeth, Volleth, Marianne, Kelbova, Christina, Hehr, Ute, Belitz, Britta, Reising-Ackermann, Gisela, Tittelbach, Hanne, Polityko, Anna, Mazaurik, Marie-Luise, Fuster, Carme, Santos, Monica, Riegel, Mariluce, Manvelyan, Marina, Schulze, Bernt, Pellestor, Franck
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14Academic Journal
المؤلفون: Duba, Hans-Christoph
المصدر: European Journal of Human Genetics ; volume 13, issue 9, page 1098-1098 ; ISSN 1018-4813 1476-5438
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15Academic Journal
المؤلفون: Fiegl, Michael, Massoner, Anita, Steurer, Michael, Grünewald, Kurt, Krugmann, Jens, Hack, Rene, Duba, Hans‐Christoph
المصدر: Cytometry Part B: Clinical Cytometry ; volume 55B, issue 1, page 60-62 ; ISSN 1552-4949 1552-4957
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16Academic Journal
المؤلفون: Duba, Hans-Christoph, Doll, Andreas, Neyer, Michael, Erdel, Martin, Mann, Christian, Hammerer, Ignaz, Utermann, Gerd, Grzeschik, Karl-Heinz
المصدر: European Journal of Human Genetics ; volume 10, issue 6, page 351-361 ; ISSN 1018-4813 1476-5438
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17Academic Journal
المؤلفون: Gunsilius, Eberhard, Duba, Hans-Christoph, Petzer, Andreas L., Kähler, Christian M., Gastl, Günther A.
المصدر: Circulation Research ; volume 88, issue 1 ; ISSN 0009-7330 1524-4571
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18Academic Journal
المؤلفون: Silahtaroglu, Asli, Hol, Frans A, Jensen, Peter KA, Erdel, Martin, Duba, Hans-Christoph, Geurds, Monique PA, Knoers, Nine VAM, Mariman, Edwin CM, Tümer, Zeynep, Utermann, Gerd, Wirth, Jutta, Bugge, Merete, Tommerup, Niels
المصدر: European Journal of Human Genetics ; volume 7, issue 1, page 68-76 ; ISSN 1018-4813 1476-5438
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19Academic Journal
المؤلفون: Duba, Hans-Christoph, Erdel, Martin, Löffler, Judith, Wirth, Jutta, Utermann, Barbara, Utermann, Gerd
المصدر: European Journal of Human Genetics ; volume 6, issue 1, page 75-79 ; ISSN 1018-4813 1476-5438
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20Academic JournalSomatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation
المؤلفون: Csillag, Bernhard, Ilencikova, Denisa, Meissl, Manfred, Webersinke, Gerald, Laccone, Franco, Narumi, Satoshi, Haas, Oskar, Duba, Hans‐Christoph
المصدر: Pediatric Blood & Cancer ; volume 66, issue 4 ; ISSN 1545-5009 1545-5017
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