المؤلفون: Jaspersen, Sue L., Stacy, Andrea V., McGlynn, Mary Claire, Gooch, Catherine F., Wilson, David B., Bolton, Kelly L.

المصدر: Pediatric Blood & Cancer ; ISSN 1545-5009 1545-5017

الإتاحة: https://doi.org/10.1002/pbc.30991Test

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

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

الإتاحة: https://doi.org/10.5167/uzh-21933510.1002/humu.24425Test
https://www.zora.uzh.ch/id/eprint/219335Test/
https://www.zora.uzh.ch/id/eprint/219335/1/Human_Mutation___2022___Woerden___The_MAP3K7_gene__further_delineation_of_clinical_characteristics_and_genotype_phenotype.pdfTest
https://www.zora.uzh.ch/id/eprint/219335/2/humu24425_sup_0001_supp_mat.pdfTest

المؤلفون: van Woerden, Geeske M., Senden, Richelle, de Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., van Bever, Yolande, Bird, Lynne M., van Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, 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 , G M , Senden , R , de Konink , C , Trezza , R A , Baban , A , Bassetti , J A , van Bever , Y , Bird , L M , van Bon , B W , Brooks , A S , Guan , Q , Klee , E W , Marcelis , C , Rosado , J M , Schimmenti , L A , Shikany , A R , Terhal , P A , Nicole Weaver , K , Wessels , M W , van Wieringen , H , Hurst ....

العلاقة: https://pure.eur.nl/en/publications/a400e913-e5a2-4609-b38b-03e18d8dd2f4Test

الإتاحة: https://doi.org/10.1002/humu.24425Test
https://pure.eur.nl/en/publications/a400e913-e5a2-4609-b38b-03e18d8dd2f4Test
http://www.scopus.com/inward/record.url?scp=85135104365&partnerID=8YFLogxKTest