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1Academic Journal
المؤلفون: Boonsawat, Paranchai, Asadollahi, Reza, Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich, Rauch, Anita
المصدر: Boonsawat , P , Asadollahi , R , Niedrist , D , Steindl , K , Begemann , A , Joset , P , Bhoj , E J , Li , D , Zackai , E , Vetro , A , Barba , C , Guerrini , R , Whalen , S , Keren , B , Khan , A , Jing , D , Palomares Bralo , M , Rikeros Orozco , E , Hao , Q , Schlott Kristiansen , B , Zheng , B , Donnelly , D , Clowes , V , Zweier , M ....
مصطلحات موضوعية: adrenal insufficiency, congenital heart defects, dominant negative, haploinsufficiency, macrocephaly, microcephaly, mirror phenotype, tumor suppressor gene, Wnt signaling, ZNRF3
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C, Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Undiagnosed Diseases Network (UDN), Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita
المصدر: Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); et al; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.
مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, Institute of Molecular Life Sciences, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/179375/1/s41436-019-0464-7.pdf; info:pmid/30842647; urn:issn:1098-3600
الاتاحة: https://www.zora.uzh.ch/id/eprint/179375/
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3Academic Journal
المؤلفون: Niedrist, Dunja, Oneda, Beatrice, Rauch, Anita
المصدر: Niedrist, Dunja; Oneda, Beatrice; Rauch, Anita (2019). Präimplantationsdiagnostik in der Schweiz: Möglichkeiten und Probleme. Swiss Medical Forum, 2019(19):21-23.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, General Medicine, PGS, PID
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/232698/1/ZORA232698.pdf; urn:issn:1424-3784
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4Academic Journal
المؤلفون: Niedrist, Dunja, Oneda, Beatrice, Rauch, Anita
المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; ISSN 1661-6146
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5Academic Journal
المؤلفون: Niedrist, Dunja, Oneda, Beatrice, Rauch, Anita
المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum ; ISSN 1424-4020
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6Academic Journal
المؤلفون: Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael, Schinzel, Albert, Stoeckli, Esther T, Rauch, Anita
المصدر: Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26(2):197-209.
مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, Neuroscience Center Zurich, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Molecular Life Sciences, Institute of Legal Medicine, 340 Law, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/148416/1/s41431-017-0019-9.pdf; info:pmid/29321670; urn:issn:1018-4813
الاتاحة: https://www.zora.uzh.ch/id/eprint/148416/
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7Academic Journal
المؤلفون: Filges, Isabel, Bartholdi, Deborah, Cichon, Sven, Niedrist, Dunja, Porret, Naomi A, Rauch, Anita, Saller, Elisabeth, von Känel, Thomas, Fokstuen, Siv
المصدر: Filges, Isabel; Bartholdi, Deborah; Cichon, Sven; Niedrist, Dunja; Porret, Naomi A; Rauch, Anita; Saller, Elisabeth; von Känel, Thomas; Fokstuen, Siv (2018). Entwicklung der genetischen und genomischen Medizin in der Schweiz. Schweizerische Ärztezeitung (SÄZ), 99(41):1418-1420.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Pharmacology (medical), Genetics
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/232697/1/ZORA_jf.pdf; urn:issn:0036-7486
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8Academic Journal
المؤلفون: Oneda, Beatrice, Asadollahi, Reza, Azzarello-Burri, Silvia, Niedrist, Dunja, Baldinger, Rosa, Masood, Rahim, Schinzel, Albert, Latal, Bea, Jenni, Oskar G, Rauch, Anita
المصدر: Oneda, Beatrice; Asadollahi, Reza; Azzarello-Burri, Silvia; Niedrist, Dunja; Baldinger, Rosa; Masood, Rahim; Schinzel, Albert; Latal, Bea; Jenni, Oskar G; Rauch, Anita (2017). Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. Molecular Syndromology, 8(5):266-271.
مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/141807/1/Oneda_et_al._Low-Level_Chromosokal_Moaaicism_Neurodevelopmental_Disorders.pdf; info:pmid/28878611; urn:issn:1661-8769
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9Academic Journal
المؤلفون: Gerth-Kahlert, Christina, Tiwari, Amit, Hanson, James V M, Batmanabane, Vaishnavi, Traboulsi, Elias, Pennesi, Mark E, Al-Qahtani, Abdullah A, Lam, Byron L, Heckenlively, John, Zweifel, Sandrine A, Vincent, Ajoy, Fierz, Fabienne, Barthelmes, Daniel, Branham, Kari, Khan, Naheed, Bahr, Angela, Baehr, Luzy, Magyar, István, Koller, Samuel, Azzarello-Burri, Silvia, Niedrist, Dunja, Heon, Elise, Berger, Wolfgang
المصدر: Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.
مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Neuroscience Center Zurich, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Medical Molecular Genetics, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/139291/1/Gerth-Kahlert_1.pdf; info:pmid/28763557; urn:issn:0146-0404
الاتاحة: https://www.zora.uzh.ch/id/eprint/139291/
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10Academic Journal
المؤلفون: Niedrist, Dunja
المصدر: Niedrist, Dunja (2016). Hochdurchsatz-Sequenzierung. Swiss Medical Forum, 16(5152):1103-1104.
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/133448/1/Niedrist,_Hochdurchsatz-Sequenzierung.pdf; urn:issn:1424-3784
الاتاحة: https://www.zora.uzh.ch/id/eprint/133448/
https://www.zora.uzh.ch/id/eprint/133448/1/Niedrist,_Hochdurchsatz-Sequenzierung.pdf
https://doi.org/10.5167/uzh-133448
https://doi.org/10.4414/SMF.2016.02840 -
11Academic Journal
المصدر: Azzarello-Burri, Silvia Miranda; Niedrist, Dunja; Rauch, Anita (2016). Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond. Swiss Medical Forum, 16(01):4-6.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, General Medicine, Brustkrebs, Genetics
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/232696/1/0a735f9d7538f4ac71ce0a7f149e25f9196d.pdf; urn:issn:1424-3784
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12Academic Journal
المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; volume 16, issue 01 ; ISSN 1661-6146 1661-6138
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13Academic Journal
المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum ; volume 16, issue 01 ; ISSN 1424-4020 1424-3784
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14Academic Journal
المؤلفون: Niedrist, Dunja
المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; volume 16, issue 5152 ; ISSN 1661-6146 1661-6138
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15Academic Journal
المؤلفون: Niedrist, Dunja
المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum ; volume 16, issue 5152 ; ISSN 1424-4020 1424-3784
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16Academic Journal
المؤلفون: Niedrist, Dunja
المصدر: Niedrist, Dunja (2014). Genetik: Schlagzeilen in der Genetik 2013. Swiss Medical Forum, 14(1-2):13-14.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, General Medicine, Genetics
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/232700/1/9d745dbf_ade6_4223_a3ba_69cc6b15530a.pdf; urn:issn:1424-3784
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17Academic Journal
المؤلفون: Oneda, Beatrice, Baldinger, Rosa, Reissmann, Regina, Reshetnikova, Irina, Krejci, Pavel, Masood, Rahim, Ochsenbein‐Kölble, Nicole, Bartholdi, Deborah, Steindl, Katharina, Morotti, Denise, Faranda, Marzia, Baumer, Alessandra, Asadollahi, Reza, Joset, Pascal, Niedrist, Dunja, Breymann, Christian, Hebisch, Gundula, Hüsler, Margaret, Mueller, René, Prentl, Elke, Wisser, Josef, Zimmermann, Roland, Rauch, Anita
المصدر: Prenatal Diagnosis ; volume 34, issue 6, page 525-533 ; ISSN 0197-3851 1097-0223
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18Academic Journal
المؤلفون: Niedrist, Dunja
المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; volume 14, issue 0102 ; ISSN 1661-6146 1661-6138
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19Academic Journal
المؤلفون: Niedrist, Dunja, Lurie, Iosif W, Schinzel, Albert
المصدر: European Journal of Human Genetics ; volume 17, issue 8, page 1086-1091 ; ISSN 1018-4813 1476-5438
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20Academic Journal
المؤلفون: Bartholdi, Deborah, Roelfsema, Jeroen H, Papadia, Francesco, Breuning, Martijn H, Niedrist, Dunja, Hennekam, Raoul C, Schinzel, Albert, Peters, Dorien J M
مصطلحات موضوعية: Letters to JMG
وصف الملف: text/html
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