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

المصدر: Human Mutation: Variation, Informatics and Disease. 43(10)

مصطلحات موضوعية: MAP3K7, Noonan syndrome, cardiospondylocarpofacial syndrome, frontometaphyseal dysplasia type 2, Abnormalities, Multiple, Genotype, Hearing Loss, Bilateral, Humans, Mitral Valve Insufficiency, Mutation, Noonan Syndrome, Osteosclerosis, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2rc8d5hc

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

المؤلفون: Senden, Richelle E.M., Keunen, Kristin, Van Der Aa, Niek E., Leemans, Alexander, Isgum, Ivana, Viergever, Max A., Dudink, Jeroen, De Vries, Linda S., Groenendaal, Floris, Benders, Manon J.N.L.

المساهمون: MS Neonatologie, Arts-assistenten Kinderen, Strategische Impuls RvB ISI, Brain, Circulatory Health, Cancer, Regenerative Medicine and Stem Cells, Child Health

مصطلحات موضوعية: Pediatrics, Perinatology, and Child Health

Relation: https://dspace.library.uu.nl/handle/1874/438711

الاتاحة: https://dspace.library.uu.nl/handle/1874/438711

المؤلفون: Senden, Richelle E M, Keunen, Kristin, van der Aa, Niek E, Leemans, Alexander, Isgum, Ivana, Viergever, Max A, Dudink, Jeroen, de Vries, Linda S, Groenendaal, Floris, Benders, Manon J N L

المصدر: Pediatric Research ; volume 83, issue 5, page 1004-1010 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/pr.2018.10
http://www.nature.com/articles/pr201810.pdf
http://www.nature.com/articles/pr201810
http://www.nature.com/doifinder/10.1038/pr.2018.10

المؤلفون: Woerden, Geeske van, Senden, Richelle, Konink, Charlotte de, Trezza, Rossella Avagliano, baban, anwar, Bassetti, Jennifer, Bever, Yolande Van, Bird, Lynne, Bon, Bregje van, Brooks, Alice, Guan, Qiaoning, Klee, Eric, Marcelis, Carlo, Morales-Rosado, Joel, Schimmenti, Lisa, Shikany, Amy, Terhal, Paulien, Weaver, Kathryn, Wessels, Marja, Wieringen, Hester van, Hurst, Anna, Gooch, Catherine, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

الاتاحة: http://dx.doi.org/10.22541/au.163741470.06165246/v1

المؤلفون: Klaphake, Sanne, van Dooren, Marieke F., Senden, Richelle E.M., Hoogeboom, A. Jeannette M., Wolvius, Eppo B., Koudstaal, Maarten J.

المصدر: Clinical Dysmorphology ; volume 27, issue 2, page 46-48 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000207
https://journals.lww.com/00019605-201804000-00005

المؤلفون: MS Neonatologie, Arts-assistenten Kinderen, Strategische Impuls RvB ISI, Brain, Circulatory Health, Cancer, Regenerative Medicine and Stem Cells, Child Health, Senden, Richelle E.M., Keunen, Kristin, Van Der Aa, Niek E., Leemans, Alexander, Isgum, Ivana, Viergever, Max A., Dudink, Jeroen, De Vries, Linda S., Groenendaal, Floris, Benders, Manon J.N.L.

URL: https://doi.org/10.1038/pr.2018.10
http://hdl.handle.net/1874/438711
http://www.scopus.com/inward/record.url?scp=85047264646&partnerID=8YFLogxK
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