日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

PTEN错构瘤肿瘤综合征(PHTS)患者的癌症预后和治疗结果——一项欧洲队列研究

Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; de Putter, Robin; Brems, Hilde; Van Daele, Sien H; Anastasiadou, Violetta C; Foretová, Lenka; Benusiglio, Patrick R; Gerasimenko, Anna; Colas, Chrystelle; Villy, Marie-Charlotte; Houdayer, Claude; Branchaud, Maud; Hüneburg, Robert; Aretz, Stefan; Jahn, Arne; Steinke-Lange, Verena; Innella, Giovanni; Turchetti, Daniela; Barili, Valeria; Genuardi, Maurizio; Panfili, Arianna; Baldassarri, Margherita; Irmejs, Arvīds; de Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Donze, Stephany H; van der Post, Rachel S; Mensenkamp, Arjen R; Westdorp, Harm; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Briskemyr, Siri; Garcia, Juliette Dupont; Blatnik, Ana; Balmaña, Judith; Torres, Maite; Brunet, Joan; Lleuger-Pujol, Roser; Tham, Emma; Tischkowitz, Marc; Evans, D Gareth; Hyder, Zerin; Hoogerbrugge, Nicoline; Vos, Janet R

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

生活方式因素与患有 PTEN 错构瘤肿瘤综合征 (PHTS) 的女性乳腺癌的关系

Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; Mensenkamp, Arjen R; Brems, Hilde; de Putter, Robin; Anastasiadou, Violetta C; Villy, Marie-Charlotte; Jahn, Arne; Steinke-Lange, Verena; Baldassarri, Margherita; Irmejs, Arvids; de Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Blatnik, Ana; Brunet, Joan; Darder, Esther; Tham, Emma; Hoogerbrugge, Nicoline; Vos, Janet R

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Bosch-Boonstra-Schaaf 视神经萎缩综合征的临床表型不断扩大:20 例新病例及可能的基因型-表型相关性

Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Fr

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

TRIO功能丧失与轻度智力障碍相关,并影响树突分支和突触功能。

Ba, Wei; Yan, Yan; Reijnders, Margot R F; Schuurs-Hoeijmakers, Janneke H M; Feenstra, Ilse; Bongers, Ernie M H F; Bosch, Daniëlle G M; De Leeuw, Nicole; Pfundt, Rolph; Gilissen, Christian; De Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Nadif Kasri, Nael; De Vries, Bert B A

NR2F1 mutations cause optic atrophy with intellectual disability

NR2F1基因突变会导致视神经萎缩和智力障碍

Bosch, Daniëlle G M; Boonstra, F Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M; Yntema, Helger G; Pfundt, Rolph; Vissers, Lisenka E L M; Spruijt, Liesbeth; Blokland, Ellen A W; Chen, Chun-An; Lewis, Richard A; Tsai, Sophia Y; Gibbs, Richard A; Tsai, Ming-Jer; Lupski, James R; Zoghbi, Huda Y; Cremers, Frans P M; de Vries, Bert B A; Schaaf, Christian P

Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain

成年自闭症患者大脑中抑制性基因表达相对于兴奋性基因表达的年龄相关性降低

van de Lagemaat, Louie N; Nijhof, Bonnie; Bosch, Daniëlle G M; Kohansal-Nodehi, Mahdokht; Keerthikumar, Shivakumar; Heimel, J Alexander

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

脑性视觉障碍引起的低视力:区分后天性和遗传性病因

Bosch, Daniëlle G M; Boonstra, F Nienke; Willemsen, Michèl A A P; Cremers, Frans P M; de Vries, Bert B A

The next best thing: Neurology: What Shall I Do?

次佳选择:《神经病学:我该怎么办?》

Boonstra, Frouke N; Bosch, Daniëlle G M; Geldof, Christiaan J A; Stellingwerf, Catharina; Porro, Giorgio; Kidd, Leonard J; Simpson, J A; Hill, Denis; Russell, W Ritchie; Brown, John D