نتائج البحث - "Hul, Wim Van"

1

دورية أكاديمية

A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.

المؤلفون: Huybrechts, Yentl, Appelman-Dijkstra, Natasha M, Steenackers, Ellen, Beylen, Wouter Van, Mortier, Geert, Hendrickx, Gretl, Hul, Wim Van

المصدر: Journal of Clinical Endocrinology & Metabolism; Jul2024, Vol. 109 Issue 7, p1891-1898, 8p

مصطلحات موضوعية: WNT signal transduction, MISSENSE mutation, GENETIC variation, BONE growth, DUTCH people, CELLULAR signal transduction, BONE density

2

دورية أكاديمية

A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders

المؤلفون: Formosa, Melissa Marie, Bergen, Dylan J.M., Gregson, Celia L., Maurizi, Antonio, Kämpe, Anders, García Giralt, Natalia, Zhou, Wei, Grinberg, Daniel, Ovejero Crespo, Diana, Carola Zillikens, M., Williams, Graham R., Duncan Bassett, J.H., Brandi, Maria Luisa, Sangiorgi, Luca, Balcells, Susanna, Högler, Wolfgang, Hul, Wim van, Mäkitie, Outi, GEMSTONE Working Group 3 COST Action

المساهمون: GEMSTONE Working Group 3 COST Action

مصطلحات موضوعية: Bone diseases, Developmental, Dwarfism, Bones -- Diseases -- Genetic aspects, Bones -- Diseases -- Treatment

العلاقة: Formosa, M., Bergen, D., Gregson, C., Maurizi, A., Kämpe, A., Garcia-Giralt, N., . Mäkitie, O. (2021). A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders. Frontiers in Endocrinology, 12, 709711.; https://www.um.edu.mt/library/oar/handle/123456789/92960Test

الإتاحة: https://doi.org/10.3389/fendo.2021.709711Test
https://www.um.edu.mt/library/oar/handle/123456789/92960Test

View record in BASE

3

1 year of basic research in bone

المؤلفون: Hul Wim Van

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Medical education, Basic research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a136a312db779f74609554c4485f337fTest
https://doi.org/10.1530/endoabs.73.pl5.2Test

4

دورية أكاديمية

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

المؤلفون: Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Hul, Wim Van, Huber, Céline, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud, Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Steen Skålhegg, Bjørn, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., Luca, Alessandro De, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, A., Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S. T., Ruiz-Pérez, Victor L.

المساهمون: Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), National Institutes of Health (US), University of Antwerp, Research Foundation - Flanders, National Health and Medical Research Council (Australia), University of Oslo

مصطلحات موضوعية: PRKACA, PRKACB, PKA, cAMP signaling, Hedgehog signaling, GLI transcritpion factors, Ellis-van Creveld syndrome, Congenital heart defects, Postaxial polydactyly, Mosaicism