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

Sex differences in self-reported symptoms and comorbidities associated with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A retrospective study

高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍患者自述症状和合并症的性别差异:一项回顾性研究

Wilson, Frances C; Zangerle, Derek J; Darakjian, Ashley A; Bhutani, Mira; Fliess, Jessica J; Gehin, Jessica M; Strandes, Max W; Hamilton, Charwan; Sledge, Hanna J; Hodge, David O; Wang, Benjamin W E; Atwal, Paldeep S; Zeman, Ashley M; Shufelt, Chrisandra L; Gajarawala, Shilpa N; Bruno, Katelyn A; Knight, Dacre R T; Fairweather, DeLisa

Localized and historical hypermobile spectrum disorders share self-reported symptoms and comorbidities with hEDS and HSD

局部性和历史性高活动性谱系障碍与 hEDS 和 HSD 具有相似的自我报告症状和合并症。

Fairweather, DeLisa; Bruno, Katelyn A; Darakjian, Ashley A; Wilson, Frances C; Fliess, Jessica J; Murphy, Emma F; Kocsis, S Christian; Strandes, Max W; Weigel, Gabriel J; Puls, Alayna M; Hartmoyer, Cameron J; Hamilton, Charwan; Whelan, Emily R; Gehin, Jessica M; Menton, Stacey M; Sledge, Hanna; Hodge, David O; Gajarawala, Shilpa; Munipalli, Bala; Shufelt, Chrisandra L; Atwal, Paldeep S; Knight, Dacre R T

Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs

明确hEDS和HSD的慢性复杂性:一项关于诊断挑战、终身合并症和未满足需求的全球调查

Daylor, Victoria; Griggs, Molly; Weintraub, Amy; Byrd, Rebecca; Petrucci, Taylor; Huff, Matthew; Byerly, Kathryn; Fenner, Roman; Severance, Sydney; Griggs, Charlotte; Sharma, Amol; Atwal, Paldeep; Kautz, Steven A; Shapiro, Steven; Youkhana, Kimberly; Lavallee, Mark; Wilkerson, Allison; Nichols, Michelle; Snyder, Alan; Eichinger, Josef K; Patel, Sunil; Maitland, Anne; Gensemer, Cortney; Norris, Russell A

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

扩大双糖链相关 Meester-Loeys 综合征的临床谱

Josephina A N Meester #, Anne Hebert #, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn

Sex differences in comorbidities associated with Sjögren's disease

干燥综合征相关合并症的性别差异

Bruno, Katelyn A; Morales-Lara, Andrea Carolina; Bittencourt, Edsel B; Siddiqui, Habeeba; Bommarito, Gabriella; Patel, Jenil; Sousou, John M; Salomon, Gary R; Paloka, Rinald; Watford, Shelby T; Hodge, David O; Lieberman, Scott M; Rozen, Todd D; Atwal, Paldeep S; Dorsher, Peter T; Seim, Lynsey A; Fairweather, DeLisa

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities

一例合并多种疾病的成年患者,其鸟氨酸转氨甲酰酶缺乏症诊断延迟的复杂病例

Abbott, Jessica; Senzatimore, Mia; Atwal, Paldeep

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

对一名携带新型GALNS外显子缺失导致莫尔基奥综合征并成功妊娠的患者进行分子建模和表型描述

Selvam, Pavalan; Jain, Angita; Abbott, Jessica; Ahuja, Abhimanyu S; Cheema, Anvir; Bruno, Katelyn A; Atwal, Herjot; Forghani, Irman; Caulfield, Thomas; Atwal, Paldeep S

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

医生指导下的基因筛查用于评估个人罹患需采取医疗措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

更正:医生指导下的基因筛查评估个人罹患需采取医学干预措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L