المؤلفون: Schmid, Cosima M, Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B, Falb, Ruth J, Müller, Amelie J, Linden, Tobias, Haldeman-Englert, Chad R, Ockeloen, Charlotte W, Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer Alisha, Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M, Elloumi, Houda Z, Person, Richard, Zou, Fanggeng, Kahle, Juliette J, Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M, Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J M, Elshafie, Reem M, Alsharhan, Hind, Hillman, Paul R, Dunnington, Leslie A, Braakman, Hilde M H, McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S, Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tumer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G, Abreu, Nicolas J, Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, Zweier, Christiane

المصدر: Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), Autism spectrum disorders, Genetics research

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf; info:pmid/39668183; urn:issn:1018-4813

الاتاحة: https://www.zora.uzh.ch/id/eprint/266396/
https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf

المؤلفون: van Woerden, Geeske M, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella Avagliano, Baban, Anwar, Bassetti, Jennifer Alisha, van Bever, Yolande, Bird, Lynne M, van Bon, Bregje W, Brooks, Alice S, Guan, Qiaoning, Klee, Eric W, Marcelis, Carlo, Rosado, Joel Morales, Schimmenti, Lisa A, Shikany, Amy R, Terhal, Paulien A, Nicole Weaver, K, Wessels, Marja W, van Wieringen, Hester, Hurst, Anna C, Gooch, Catherine F, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

المصدر: van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella Avagliano; Baban, Anwar; Bassetti, Jennifer Alisha; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel Morales; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, K; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10):1377-1395.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, MAP3K7, frontometaphyseal dysplasia type 2, cardiospondylocarpofacial syndrome, Noonan Syndrome

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/219335/1/Human_Mutation___2022___Woerden___The_MAP3K7_gene__further_delineation_of_clinical_characteristics_and_genotype_phenotype.pdf; https://www.zora.uzh.ch/id/eprint/219335/2/humu24425_sup_0001_supp_mat.pdf; info:pmid/35730652; urn:issn:1059-7794

الاتاحة: https://www.zora.uzh.ch/id/eprint/219335/
https://www.zora.uzh.ch/id/eprint/219335/1/Human_Mutation___2022___Woerden___The_MAP3K7_gene__further_delineation_of_clinical_characteristics_and_genotype_phenotype.pdf
https://www.zora.uzh.ch/id/eprint/219335/2/humu24425_sup_0001_supp_mat.pdf
https://doi.org/10.1002/humu.24425