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

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

对携带致病性新生突变的婴儿出生后进行个性化复发风险评估

Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne

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

BRXL4-LAZY1 interaction at the plasma membrane controls Arabidopsis branch angle and gravitropism

BRXL4-LAZY1在质膜上的相互作用控制拟南芥的分枝角度和向地性

Che, Ximing; Splitt, Bessie L; Eckholm, Magnus T; Miller, Nathan D; Spalding, Edgar P

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Börjeson-Forssman-Lehmann综合征:14个新家族的临床和等位基因谱分析

Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J; Davies, Sally J; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E; Greenhalgh, Lynn; Holder, Susan E; Johnson, Diana; Kumar, Ajith; Ladda, Roger L; Sell, Susan; Begtrup, Amber; Lynch, Sally A; McCann, Emma; Østern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E

Metabolic reprogramming in response to cell mechanics

细胞力学响应下的代谢重编程

Splitt, Rebecca L; DeMali, Kris A

Low Pretreatment CD4+:CD8+ T Cell Ratios and CD39+CD73+CD19+ B Cell Proportions Are Associated with Improved Relapse-Free Survival in Head and Neck Squamous Cell Carcinoma

治疗前CD4+:CD8+ T细胞比例和CD39+CD73+CD19+ B细胞比例较低与头颈部鳞状细胞癌患者无复发生存期延长相关

Ross J Turner,Thomas V Guy,Nicholas J Geraghty,Ashleigh Splitt,Debbie Watson,Daniel Brungs,Martin G Carolan,Andrew A Miller,Jeremiah F de Leon,Morteza Aghmesheh,Ronald Sluyter

The Phenotypic Continuum of ATP1A3-Related Disorders

ATP1A3相关疾病的表型连续谱

Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; Németh, Andrea H; Tofaris, George K; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R; Splitt, Miranda; Turnpenny, Peter D; Demetriou, Demetria; Koopmann, Tamara T; Ruivenkamp, Claudia A L; Agrawal, Pankaj B; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M; Kurian, Manju A; Cross, J Helen; Balasubramanian, Meena

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

eIF5A功能受损会导致一种孟德尔遗传病,在模型系统中,亚精胺可以部分挽救这种疾病。

Víctor Faundes ,Martin D Jennings ,Siobhan Crilly ,Sarah Legraie ,Sarah E Withers ,Sara Cuvertino ,Sally J Davies ,Andrew G L Douglas ,Andrew E Fry ,Victoria Harrison ,Jeanne Amiel ,Daphné Lehalle ,William G Newman ,Patricia Newkirk ,Judith Ranells ,Miranda Splitt ,Laura A Cross ,Carol J Saunders ,Bonnie R Sullivan ,Jorge L Granadillo ,Christopher T Gordon ,Paul R Kasher ,Graham D Pavitt ,Siddharth Banka

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

eIF5A功能受损会导致一种孟德尔遗传病,在模型系统中,亚精胺可以部分挽救这种疾病。

Víctor Faundes,Martin D Jennings,Siobhan Crilly,Sarah Legraie,Sarah E Withers,Sara Cuvertino,Sally J Davies,Andrew G L Douglas,Andrew E Fry,Victoria Harrison,Jeanne Amiel ,Daphné Lehalle,William G Newman,Patricia Newkirk,Judith Ranells,Miranda Splitt,Laura A Cross,Carol J Saunders ,Bonnie R Sullivan,Jorge L Granadillo,Christopher T Gordon,Paul R Kasher,Graham D Pavitt,Siddharth Banka