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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Symptoms across the phases of the migraine cycle from the patient's perspective: Results of the MiCOAS qualitative study

从患者角度看偏头痛周期各阶段的症状:MiCOAS定性研究结果

McGinley, James S; Mangrum, Rikki; Gerstein, Maya T; McCarrier, Kelly P; Houts, Carrie R; Buse, Dawn C; Bryant, Alexandra L; Wirth, R J; Lipton, Richard B

Content Validation of the QOL-B-RD and PROMIS-F SF-7a to Measure Respiratory and Fatigue Symptoms of MAC Lung Disease

对 QOL-B-RD 和 PROMIS-F SF-7a 进行内容效度验证,以测量 MAC 肺病的呼吸和疲劳症状。

McCarrier, Kelly P; Hassan, Mariam; Yuen, Dayton W; Tsai, Jui-Hua; Touba, Nancy; Mange, Kevin C

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Content Validity of the Hemophilia Device Handling and Preference Assessment Questionnaire - A Cognitive Debrief Study in Patients with Hemophilia and Their Caregivers

血友病设备操作和偏好评估问卷的内容效度——一项针对血友病患者及其照护者的认知访谈研究

Rasmussen, Niklas Kahr; Shah, Sanket; Tsai, Jui-Hua; McCarrier, Kelly P; Hildebrand, Emily A; Gonczi, Maya; Ter-Borch, Gitte; Berg, Birgitte; Neergaard, Jesper Skov

Physician and professional caregiver perspectives on meaningful change in agitation behaviors in Alzheimer's dementia: Insights from qualitative interviews

医生和专业护理人员对阿尔茨海默病痴呆症患者躁动行为发生有意义改变的看法:来自定性访谈的见解

Smith, Jessica; Talon, Brian; Martinez, Ana; McCarrier, Kelly; Aggarwal, Jyoti

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

生殖系ERG单倍体不足定义了一种新的综合征,其特征是血细胞减少和血液系统恶性肿瘤易感性

Zerella, Jiarna R; Homan, Claire C; Arts, Peer; Lin, Xuzhu; Spinelli, Sam J; Venugopal, Parvathy; Babic, Milena; Brautigan, Peter J; Truong, Lynda; Arriola-Martinez, Luis; Moore, Sarah; Hollins, Rachel; Parker, Wendy T; Nguyen, Hung; Kassahn, Karin S; Branford, Susan; Feurstein, Simone; Larcher, Lise; Sicre de Fontbrune, Flore; Demirdas, Serwet; de Munnik, Sonja; Antoine-Poirel, Hélène; Brichard, Benedicte; Mansour, Sahar; Gordon, Kristiana; Wlodarski, Marcin W; Koppayi, Ashwin; Dobbins, Sara; Mutsaers, Pim G N J; Nichols, Kim E; Oak, Ninad; DeMille, Desiree; Mao, Rong; Crawford, Ali; McCarrier, Julie; Basel, Donald; Flores-Daboub, Josue; Drazer, Michael W; Phillips, Kerry; Poplawski, Nicola K; Birdsey, Graeme M; Pirri, Daniela; Ostergaard, Pia; Simons, Annet; Godley, Lucy A; Ross, David M; Hiwase, Devendra K; Soulier, Jean; Brown, Anna L; Carmichael, Catherine L; Scott, Hamish S; Hahn, Christopher N

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

The impacts of migraine on functioning: Results from two qualitative studies of people living with migraine

偏头痛对功能的影响:两项针对偏头痛患者的定性研究结果

Mangrum, Rikki; Bryant, Alexandra L; Gerstein, Maya T; McCarrier, Kelly P; Houts, Carrie R; McGinley, James S; Buse, Dawn C; Lipton, Richard B; Wirth, R J