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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD

46,XX睾丸/卵睾性发育异常患者的性腺功能及其演变

Sepich, Margherita; Bertelloni, Silvano; Tyutyusheva, Nina; Lucas-Herald, Angela; Mazen, Inas; Cools, Martine; Van Paemel, Ruben; Poyrazoğlu, Şükran; Hiort, Olaf; Döhnert, Ulla; Neumann, Uta; Phan-Hug, Franziska; Atapattu, Navoda; Seneviratne, Sumudu; Markosyan, Renata; Rey, Rodolfo; Suco, Sofia; Baronio, Federico; Lichiardopol, Corina; Verkauskas, Gilvydas; Stancampiano, Marianna; Russo, Gianni; Konrad, Daniel; Lenherr-Taube, Nina; Hannema, Sabine; Gazdagh, Gabriella; Peroni, Diego; Ahmed, Syed Faisal

SAT-420 First Insights into the Health Status of Adults with CAH in the UK and Ireland - CaHASE2

SAT-420 英国和爱尔兰先天性肾上腺皮质增生症 (CAH) 成年患者健康状况初步调查 - CaHASE2

Md Nawawi, Nur Zawani; Kanoo, Lina Lohshini; Peter, Alan Basil; Alias, Am Basheeri; Baharuddin, Hazlyna; Ramli, Anis Safura; Bacila, Irina A; Welch, Rebecca; Adam, Safwaan; Faisal Ahmed, S; Alimussina, Malika; Chinnasamy, Eswari; Crowne, Elizabeth C; Davies, Justin H; Davis, Amanda; Davis, Jessica; Debono, Miguel; Elford, Sue; Elhassan, Yasir; Gazdagh, Gabriella; Gleeson, Helena; James, Lynette; Korbonits, Marta; Llanaha, Sofia; Lynch, Julie M; McGeoch, Susan; Mitchell, Anna; Murray, Robert D; Nedelcu, Silvia; Okoro, Grace; O'Reilly, Michael W; Rees, Aled; Scott, Rebecca; Stimson, Roland H; Thankamony, Ajay; Tomlinson, Jeremy W; Vaidya, Bijay; Krone, Nils P

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

多位点印记紊乱(MLID):临床和分子诊断临时联合声明

Mackay, Deborah J G; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M; Kalish, Jennifer M; Maas, Saskia M; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep

Predictors of surgical complications in boys with hypospadias: data from an internationa registry

预测尿道下裂男童手术并发症的因素:来自国际登记处的数据

Scougall, Kathryn; Bryce, Jillian; Baronio, Federico; Boal, Rachel L; Castera, Jose Roberto; Castro, Sebastián; Cheetham, Tim; Costa, Eduardo Corrêa; Darendeliler, Feyza; Davies, Justin H; Dirlewanger, Mirjam; Gazdagh, Gabriella; Globa, Evgenia; Guerra-Junior, Gil; Guran, Tulay; Herrmann, Gloria; Holterhus, Paul-Martin; Akgül, Ahsen Karagözlü; Markosyan, Renata; McElreavey, Kenneth; Miranda, Marcio Lopes; Nordenstrom, Anna; O'Toole, Stuart; Poyrazoglu, Sukran; Russo, Gianni; Schwitzgebel, Valerie; Stancampiano, Marianna; Steigert, Michael; Ahmed, S Faisal; Lucas-Herald, Angela K

PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development

PMON312 是 SEC31A 基因中一种与垂体激素缺乏和性发育障碍相关的从头杂合无义变异

Bernreuther, Christian; Flitsch, Jörg; Lüdecke, Dieter K; Hagel, Christian; Greenfield, Andy; Herzyk, Pawel; Lucas-Herald, Angela K; McGowan, Ruth; SGP, Scottish Genomes Partnership; Touyz, Rhian M; Williams, Nicola; Tobias, Edward S; Sagar, Danielle; Montezano, Augusto C; Rios, Francisco J; de Lucca Camargo, Livia; Hamilton, Graham; Gazdagh, Gabriella

November 7–8, 2022, T1DX‐QI Learning Session, Journal of Diabetes Abstracts

2022年11月7日至8日,T1DX‐QI学习会议,《糖尿病杂志》摘要

Tadokoro-Cuccaro, Rieko; Hughes, Ieuan A; Cools, Martine; van de Vijver, Koen; Bilharinho de Mendonça, Berenice; Domenice, Sorahia; Loch Batista, Rafael; Thomazini Dallago, Renata; Costa, Elaine F; Lisboa Gomes, Nathalia; Maciel-Guerra, Andréa T; Guerra-Junior, Gil; Gabriel Ribeiro de Andrade, Juliana; Lucas-Herald, Angela; Bryce, Jillian; Hannema, Sabine; Juul, Anders; Globa, Evgenia; McElreavey, Ken; Baronio, Federico; Rey, Rodolfo; Lopez Dacal, Jimena; Darendeliler, Feyza; Poyrazoglu, Sukran; Kolesińska, Zofia; Niedziela, Marek; Claahsen-van der Grinten, Hedi L; van den Akker, Erica L T; Herrmann, Gloria; Atapattu, Navoda; Jain, Vandana; Sharma, Rajni; Bettendorf, Markus; Konrad, Daniel; Lenherr-Taube, Nina; Holterhus, Paul Martin; Fica, Simona; Skae, Mars; Russo, Gianni; Stancampiano, Marianna Rita; Gazdagh, Gabriella; Davies, Justin H; Mohamed, Zainaba; Seneviratne, Sumudu Nimali; Güran, Tülay; Güven, Ayla; Wasniewska, Malgorzata; Mladenov, Vilhelm; Verkauskas, Gilvydas; Markosyan, Renata; Korbonits, Marta; Hiort, Olaf; Frielitz-Wagner, Isabel Viola; Ahmed, S Faisal; Thankamony, Ajay