نتائج البحث - "Stühn, Lara"

1

دورية أكاديمية

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O'Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, Loss-of-function, Cohesin, CdLS3, LoF

وصف الملف: application/pdf

العلاقة: Human Genetics and Genomics Advances; Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024;5(2):100273. doi:10.1016/j.xhgg.2024.100273; https://hdl.handle.net/1805/41518Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100273Test
https://hdl.handle.net/1805/41518Test

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2

دورية أكاديمية

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

المصدر: Wortmann , S B , Feichtinger , R G , Abela , L , van Gemert , L A , Aubart , M , Dufeu-Berat , C-M , Boddaert , N , de Coo , R , Stühn , L , Hebbink , J , Heinritz , W , Hildebrandt , J , Himmelreich , N , Korenke , C , Lehman , A , Leyland , T , Makowski , C , Martinez Marin , R J , Marzin , P , Mühlhausen , C , Rio , M , Rotig , A , Roux , C-J , ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/258408cb-d334-4070-8438-8e380ca4c533Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000200146Test
https://cris.maastrichtuniversity.nl/en/publications/258408cb-d334-4070-8438-8e380ca4c533Test

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3

دورية أكاديمية

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O'Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome (CdLS), Cohesin, Loss-of-function

وصف الملف: application/pdf

العلاقة: Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Preprint. medRxiv. 2023;2023.09.27.23294269. Published 2023 Sep 28. doi:10.1101/2023.09.27.23294269; https://hdl.handle.net/1805/39578Test

الإتاحة: https://doi.org/10.1101/2023.09.27.23294269Test
https://hdl.handle.net/1805/39578Test

View record in BASE