المؤلفون: Oppermann, Henry^{Aff1, IDs41431023014452_cor1}, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra^{Aff5, Aff6}, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina^{Aff15, Aff16}, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S.^{Aff22, Aff23}, Scherer, Stephen W.^{Aff22, Aff23}, Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia^{Aff35, Aff36}, Janecke, Andreas R.^{Aff37, Aff38}, Hsieh, Tzung-Chien, Lesmann, Hellen^{Aff39, Aff40}, Klinkhammer, Hannah^{Aff39, Aff41}, Krawitz, Peter M., Lemke, Johannes R.^{Aff1, Aff42}, Jamra, Rami Abou, Nieto, Marta^{Aff2, IDs41431023014452_cor53}, Tümer, Zeynep^{Aff43, Aff44, IDs41431023014452_cor54}, Platzer, Konrad

المصدر: European Journal of Human Genetics. 31(11):1251-1260

المؤلفون: Patterson, Karynne, Chong, Jessica X., Chung, Doug D., Lisch, Walter, Karp, Carol L., Dreisler, Erling, Lockington, David, Rohrbach, Jens M., Garczarczyk-Asim, Dorota, Müller, Thomas, Tuft, Stephen J., Skalicka, Pavlina, Wilnai, Yael, Samra, Nadra Naser, Ibrahim, Ali, Mandel, Hanna, Davidson, Alice E., Liskova, Petra, Aldave, Anthony J., Bamshad, Michael J., Janecke, Andreas R.

المصدر: In American Journal of Ophthalmology February 2024 258:183-195

المؤلفون: Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

المصدر: Human Mutation. 43(7):832-858

مصطلحات موضوعية: achromatopsia, CNGA3, cyclic nucleotide-gated ion channel, in silico analysis, variant classification, variant spectrum, medicinsk genetik, Medical Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641
https://doi.org/10.1002/humu.24371
https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdf

المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

المصدر: Brain. 144(5)

مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3zq3c14v

المؤلفون: Stegmann, Jil D.^{Aff1, Aff2, IDs41525024003989_cor1}, Kalanithy, Jeshurun C.^{Aff1, Aff3}, Dworschak, Gabriel C.^{Aff1, Aff3, Aff4}, Ishorst, Nina^{Aff1, Aff3}, Mingardo, Enrico, Lopes, Filipa M., Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T., Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad^{Aff10, Aff11}, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza^{Aff10, Aff13}, Bekheirnia, Nasim^{Aff13, Aff14}, Scala, Marcello^{Aff15, Aff16}, Morleo, Manuela^{Aff17, Aff18}, Nigro, Vincenzo^{Aff17, Aff18}, Torella, Annalaura^{Aff17, Aff18}, Pinelli, Michele^{Aff18, Aff19}, Capra, Valeria, Accogli, Andrea^{Aff21, Aff22}, Maitz, Silvia, Spano, Alice, Olson, Rory J., Klee, Eric W.^{Aff25, Aff26, Aff27}, Lanpher, Brendan C.^{Aff25, Aff26}, Jang, Se Song, Chae, Jong-Hee^{Aff28, Aff29}, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R.^{Aff32, Aff33}, Vodopiutz, Julia, Vogel, Ida^{Aff35, Aff36}, Blechingberg, Jenny, Cohen, Jennifer L., Riley, Kacie, Klee, Victoria, Walsh, Laurence E., Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stoppe, Arzu, Stuurman, Kyra, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Mulhern, Maureen S.^{Aff43, Aff44}, Sands, Tristan T.^{Aff45, Aff46, Aff47}, Cytrynbaum, Cheryl^{Aff48, Aff49}, Weksberg, Rosanna^{Aff49, Aff50}, Isidori, Federica, Pippucci, Tommaso, Severi, Giulia, Montanari, Francesca, Kruer, Michael C.^{Aff52, Aff53}, Bakhtiari, Somayeh^{Aff52, Aff53}, Darvish, Hossein, Reutter, Heiko^{Aff1, Aff55, Aff56}, Hagelueken, Gregor, Geyer, Matthias, Woolf, Adrian S.^{Aff5, Aff58}, Posey, Jennifer E., Lupski, James R.^{Aff10, Aff14, Aff59, Aff60}, Odermatt, Benjamin^{Aff2, Aff3}, Hilger, Alina C.^{Aff61, Aff62, IDs41525024003989_cor72}

المصدر: npj Genomic Medicine. 9(1)

المؤلفون: Norsa, Lorenzo, Duclaux-Loras, Remi, Berni Canani, Roberto, Bequet, Emeline, Koeglmeier, Jutta, Russell, Richard K, Ulihg, Holm, Koletzko, Sybille, Deflandre, Jacques, Neil, Shah, Rodrigues, Astor, Heinz-Erian, Peter, Janecke, Andreas R, Lachaux, Alain, Kolho, Kaja-Lena, Ruemmele, Frank

مصطلحات موضوعية: Human health sciences :: Gastroenterology & hepatology, Sciences de la santé humaine :: Gastroentérologie & hépatologie, Human health sciences :: Pediatrics, Sciences de la santé humaine :: Pédiatrie

جغرافية الموضوع: international

Relation: 52nd Annual Meeting of ESPGHAN, Glasgow, Ecosse (Du 5 au 8 juin 2019)

URL الوصول: https://orbi.uliege.be/handle/2268/244369

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المؤلفون: Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O'Connor, Brian D, Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F, Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R, Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe

المصدر: Nature Genetics, 54 (2), 213 (2022-02)

مصطلحات موضوعية: Genetics, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41588-022-01013-2.pdf; urn:issn:1061-4036; urn:issn:1546-1718

URL الوصول: https://orbi.uliege.be/handle/2268/301384

المؤلفون: Janecke, Andreas R, Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G, Gahl, William A, Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M, Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat

المصدر: American Journal of Medical Genetics Part A. 170(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Brain Disorders, Clinical Research, Pediatric, Adolescent, Adult, Child, Child, Preschool, Connective Tissue Diseases, Dermis, Ehlers-Danlos Syndrome, Female, Fibroblasts, Fluorescent Antibody Technique, Indirect, Humans, Infant, Male, Middle Aged, Mutation, Sulfotransferases, Young Adult, dermatan sulfate, deficiency, dermatan sulfate epimerase, N-acetylgalactosamine 4-O-sulfotransferase, connective tissue, Ehlers-Danlos syndrome, adducted thumb, clubfoot, proteoglycan, arthrogryposis, myopathy, Genetics, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/61r2r3nn