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

C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias

C型利钠肽和X型胶原蛋白标志物在骨骼发育不良中异常

Carroll, Ricki S; Olney, Robert C; Duker, Angela L; Coghlan, Ryan F; Schelhaas, Andrea J; Mackenzie, William G; Ditro, Colleen P; Brown, Cassondra J; O'Connell, David A; Horton, William A; Johnstone, Brian; Espiner, Eric A; Prickett, Timothy C R; Bober, Michael B

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

RNU4ATAC基因突变与冻疮样病变和I型干扰素信号增强有关

Robertson, Nic; Joshi, Aakash; Ritchie, Francesca; Schim van der Loeff, Ina; Royan, David; Duker, Angela L; Rice, Gillian I; Bober, Michael B; Mansour, Sahar; Campbell, David I; Brennan, Mary; Brown, Lindsay; Jones, Laura; Williams, Eleri; Jackson, Andrew P; Crow, Yanick J

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation

RAB1A单倍体不足的表型与2p14-p15微缺失相似,并且与神经元分化受损有关。

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study

气管狭窄及其对莫尔基奥A型(IVA型粘多糖贮积症)患者麻醉护理的影响:一项观察性研究

Theroux, Mary C; DiCindio, Sabina; Averill, Lauren W; Pizarro, Christian; Oommen, Abraham; Bober, Michael B; Ditro, Colleen; Campbell, Jeffrey; Duker, Angela L; Jones, Taylor; Passi, Vandna; Barth, Patrick; Schmidt, Richard J; Little, Mary; Mackenzie, Stuart; Tomatsu, Shunji; Mackenzie, William G

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

儿童骨骼发育不良患者血清细胞因子表达趋势

O'Connell, David A; Carroll, Ricki S; Duker, Angela L; Schelhaas, Andrea J; Postell, Marjorie M; Fawcett, Paul T; Bober, Michael B

Identification of potential non-invasive biomarkers in diastrophic dysplasia

识别成骨不全症中潜在的非侵入性生物标志物

Paganini, Chiara; Carroll, Ricki S; Gramegna Tota, Chiara; Schelhaas, Andrea J; Leone, Alessandra; Duker, Angela L; O'Connell, David A; Coghlan, Ryan F; Johnstone, Brian; Ferreira, Carlos R; Peressini, Sabrina; Albertini, Riccardo; Forlino, Antonella; Bonafé, Luisa; Campos-Xavier, Ana Belinda; Superti-Furga, Andrea; Zankl, Andreas; Rossi, Antonio; Bober, Michael B

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

小头畸形骨发育不良原始侏儒症II型与全身血管疾病相关

Duker, Angela L; Kinderman, Dagmar; Jordan, Christy; Niiler, Tim; Baker-Smith, Carissa M; Thompson, Louise; Parry, David A; Carroll, Ricki S; Bober, Michael B

Defining the clinical phenotype of Saul-Wilson syndrome

明确索尔-威尔逊综合征的临床表型

Ferreira, Carlos R; Zein, Wadih M; Huryn, Laryssa A; Merker, Andrea; Berger, Seth I; Wilson, William G; Tiller, George E; Wolfe, Lynne A; Merideth, Melissa; Carvalho, Daniel R; Duker, Angela L; Bratke, Heiko; Haug, Marte Gjøl; Rohena, Luis; Hove, Hanne B; Xia, Zhi-Jie; Ng, Bobby G; Freeze, Hudson H; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L; Tham, Emma; Nishimura, Gen; Phillips, John A 3rd; Gahl, William A; Hamid, Rizwan; Jackson, Andrew P; Grigelioniene, Giedre; Bober, Michael B

Growth in individuals with Saul-Wilson syndrome

患有索尔-威尔逊综合征的个体的生长发育情况

Ferreira, Carlos R; Niiler, Timothy; Duker, Angela L; Jackson, Andrew P; Bober, Michael B