نتائج البحث - "Janecke, Andreas"

1

دورية أكاديمية

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

المؤلفون: Stegmann, Jil D, Kalanithy, Jeshurun C, Dworschak, Gabriel C, Ishorst, Nina, 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, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J, Klee, Eric W, Lanpher, Brendan C, Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R, Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L, Riley, Kacie, Klee, Victoria, Walsh, Laurence E, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stuurman, Kyra, van Slegtenhorst, Marjon

المصدر: Stegmann , J D , Kalanithy , J C , Dworschak , G C , TUDP consortium , Ishorst , N , Mingardo , E , Lopes , F M , Ho , Y M , Grote , P , Lindenberg , T T , Yilmaz , Ö , Channab , K , Seltzsam , S , Shril , S , Hildebrandt , F , Boschann , F , Heinen , A , Jolly , A , Myers , K , McBride , K , Bekheirnia , M R , Bekheirnia , N , Scala , M , Morleo ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test

الإتاحة: https://doi.org/10.1038/s41525-024-00398-9Test
https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test
https://pure.eur.nl/ws/files/137962317/s41525-024-00398-9.pdfTest
http://www.scopus.com/inward/record.url?scp=85186632646&partnerID=8YFLogxKTest

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2

دورية أكاديمية

Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity

المؤلفون: Vogel, Georg‐Friedrich, Podpeskar, Alexandra, Rieder, Dietmar, Salzer, Helin, Garczarczyk‐Asim, Dorota, Wang, Li, Abuduxikuer, Kuerbanjiang, Wang, Jian‐She, Scharrer, Anke, Faqeih, Eissa Ali, Aseeri, Ali T., Vodopiutz, Julia, Heilos, Andreas, Pichler, Judith, Huber, Wolf‐Dietrich, Müller, Thomas, Knisely, A. S., Janecke, Andreas R.

المصدر: Clinical Genetics ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14524Test

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3

دورية أكاديمية

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

المساهمون: NHLBI, NHGRI, Charles University, University of Miami Miller School of Medicine, UKRI, NIH

المصدر: American Journal of Ophthalmology ; volume 258, page 183-195 ; ISSN 0002-9394

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.ajo.2023.10.011Test
https://api.elsevier.com/content/article/PII:S0002939423004403?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002939423004403?httpAccept=text/plainTest

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4

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

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

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

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5

دورية أكاديمية

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

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)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3zq3c14vTest

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6

مؤتمر

Congenital chloride diarrhea and inflammatory bowel disease : an emerging association

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

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

الوصول الحر: https://orbi.uliege.be/handle/2268/244369Test

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7

دورية أكاديمية

CUX1-related neurodevelopmental disorder:deep insights into phenotype-genotype spectrum and underlying pathology

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., 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, Janecke, Andreas R., Hsieh, Tzung Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S , Srivastava , S , Frazier , Z , Maiwald , R , Pergande , M , Milani , D , Rinelli , M , Levy , J , Krey , I , Fontana , P , Lonardo , F , Riley , ....

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest
https://findresearcher.sdu.dk/ws/files/245118658/s41431_023_01445_2.pdfTest

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