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

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK

英国成人X连锁低磷血症(XLH)患者使用布罗索单抗的真实世界疗效

Bubbear, Judith; Lachmann, Robin; Murphy, Elaine; Krishna, Gauri; Clunie, Gavin P R; Walsh, Jennifer; Schini, Marian; Salam, Syazrah; Roy, Matthew; Finezilber, Yael; Mathieson, Leigh; Hayes, Victoria; Johnson, Ben; Logan, Gillian; Stevens, Daniel; Davda, Rakesh; Nixon, Mark; Bowden, Annabel; Barham, Helen; Keen, Richard

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

利用容积式采血装置研究静脉血浆和毛细血管血中苯丙氨酸含量的关系

Carling, Rachel S; Barclay, Zoe; Cantley, Nathan; Emmett, Erin C; Hogg, Sarah L; Finezilber, Yael; Schulenburg-Brand, Danja; Murphy, Elaine; Moat, Stuart J

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

单中心利用公共资金进行临床外显子组测序以诊断神经发育障碍或多发性先天性异常的经验

Pode-Shakked, Ben; Barel, Ortal; Singer, Amihood; Regev, Miriam; Poran, Hana; Eliyahu, Aviva; Finezilber, Yael; Segev, Meirav; Berkenstadt, Michal; Yonath, Hagith; Reznik-Wolf, Haike; Gazit, Yael; Chorin, Odelia; Heimer, Gali; Gabis, Lidia V; Tzadok, Michal; Nissenkorn, Andreea; Bar-Yosef, Omer; Zohar-Dayan, Efrat; Ben-Zeev, Bruria; Mor, Nofar; Kol, Nitzan; Nayshool, Omri; Shimshoviz, Noam; Bar-Joseph, Ifat; Marek-Yagel, Dina; Javasky, Elisheva; Einy, Reviva; Gal, Moran; Grinshpun-Cohen, Julia; Shohat, Mordechai; Dominissini, Dan; Raas-Rothschild, Annick; Rechavi, Gideon; Pras, Elon; Greenbaum, Lior

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

由ACP5基因突变引起的脊椎软骨发育不良:一项综合调查

Briggs, Tracy A; Rice, Gillian I; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sébastien; Karall, Daniela; Kulkarni, Muralidhar L; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Bürgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

勘误:ACP5基因突变引起的脊椎软骨发育不良:一项综合调查

Briggs, Tracy A; Rice, Gillian I; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan; Baudouin, Veronique; Cebeci, Ayse N; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Guven, Ayla; Heritier, Sébastien; Karall, Daniela; Kulkarni, Muralidhar L; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnes; Livingston, John H; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revencu, Nicole; Scholl-Bürgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J