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

NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life

NF1 特异性头围生长曲线(适用于生命最初 3 年)

Mandal, Ayan S; Shinohara, Russell T; Jung, Benjamin; Gardner, Margaret; Akouri, Habib Elias; Yerys, Benjamin E; Low, Karen J; Cole, Tim J; Guthrie, Whitney; Janke, Kelly M; Herrington, John D; Hocking, Matthew C; Ball, Gareth; Payne, Jonathan M; North, Kathryn N; Muhlert, Nils; Garg, Shruti; Seidlitz, Jakob; Fisher, Michael J; Alexander-Bloch, Aaron F

Second report of registry of the International Society of Uterus Transplantation (ISUTx): international activities 2000-2024

国际子宫移植协会(ISUTx)注册登记第二份报告:2000-2024 年国际活动

Brännström, Mats; Racowsky, Catherine; Wiik, Johanna; Tullius, Stefan G; Deans, Rebecca; Porrett, Paige M; Andraus, Wellington; Koon, Tan Hak; Carmona, Francisco; Akouri, Randa; Scollo, Paolo; Solanki, Smit; Vivek, Padmapriya; Smith, J Richard; Puntambekar, Shailesh P; Kim, Sung Eun; Özkan, Ömer; Ayoubi, Jean-Marc; Fronek, Jiri; Brucker, Sara Y

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes

卡塔尔国家扩大新生儿代谢筛查计划:发病率和结果

Jamaleddin, Tala; El-Akouri, Karen; Abiib, Sumaya; Mitri, Rola; Ramaswamy, Mamatha; Musa, Sara; Ali, Rehab; Shahbeck, Noora; Al Rifai, Hilal; Abdoh, Ghassan; Ben-Omran, Tawfeg; Al-Dirbashi, Osama Y; Al-Shafai, Mashael

679. DISSECTING EPIGENETIC HETEROGENEITY IN SCHIZOPHRENIA

679. 剖析精神分裂症的表观遗传异质性

Akouri-Shan, LeeAnn; DeLuca, Joseph S; Pitts, Steven C; Jay, Samantha Y; Redman, Samantha L; Petti, Emily; Bridgwater, Miranda A; Rakhshan Rouhakhtar, Pamela J; Klaunig, Mallory J; Chibani, Doha; Martin, Elizabeth A; Reeves, Gloria M; Schiffman, Jason; Opazo, C M; Lotan, A; Luza, S; Lane, D; Mancuso, S; Pereira, A; Sundram, S; Weickert, C S; Bousman, C; Everall, I P; Pantelis, C; Bush, A I; Mendez-Victoriano, G; Zhu, Y; Kostoglou, Y; Middleton, F; Walker, A K; Webster, M J; Weickert, C S; Debs, S; Conn, I; Navaneethan, B; Penklis, A; Weickert, C S; Purves-Tyson, T D; Kiltschewskij, D; Reay, W; Cairns, M

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar

探索卡塔尔非综合征性视网膜营养不良的遗传原因

Abiib, Sumaya; Khodjet-El-Khil, Houssein; Bux, Reem Ibrahim; El-Akouri, Karen; Okashah, Sarah; Ben Omran, Tawfeg; Al Saleh, Rehab; Al-Shafai, Mashael

Ovarian function and response to gonadotropins after prolonged perfusion of whole ewe ovaries in a bioreactor.

在生物反应器中对整个母羊卵巢进行长时间灌注后,卵巢功能和对促性腺激素的反应

Hatekar Prajakta, Tsiartas Panagiotis, Gómez Lucía de Miguel, Mateoiu Claudia, Sehic Edina, Hellström Mats, Patrizio Pasquale, Akouri Randa

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar

卡塔尔父母对遗传咨询和儿童先天性异常基因检测的认知和态度

Alkilani, Houda M; El-Akouri, Karen; Farooq, Abdulaziz; Shi, Zumin; Al-Shafai, Mashael; Stotland, Mitchell; Khodjet-El-Khil, Houssein

NF1-specific growth charts for head circumference over the first three years of life

NF1 特异性头围生长曲线图(适用于生命最初三年)

Mandal, Ayan S; Shinohara, Russell T; Jung, Benjamin; Gardner, Margaret; Akouri, Habib E; Yerys, Benjamin E; Guthrie, Whitney; Janke, Kelly M; Herrington, John D; Hocking, Matthew C; Ball, Gareth; Payne, Jonathan M; North, Kathryn N; Muhlert, Nils; Garg, Shruti; Seidlitz, Jakob; Fisher, Michael J; Alexander-Bloch, Aaron

Semen HPV and IVF: insights from infection prevalence to embryologic outcomes

精液HPV与体外受精:从感染率到胚胎学结局的启示

Francis, Jynfiaf; Tsiartas, Panagiotis; Hreinsson, Julius; Andersson, Maria; Hermansson, Jonas; Gogas, Periklis; Papadimitriou, Theophilos; Kärrberg, Cecilia; Brännström, Mats; Akouri, Randa