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

Impaired retinoic acid receptor-γ signaling underlies a heritable form of urothelial keratinizing squamous metaplasia

视黄酸受体γ信号传导受损是遗传性尿路上皮角化鳞状化生症的根本原因。

Fukushima, Kaya; Avery, Nicole; Desjardins, Jade; Halliday, Benjamin J; Jenkins, Zandra A; Porteous, Robert; Morgan, Tim; Parthasarathy, Padmini; Lau, Michael; Vincent, Michael W; Liu, Karen J; Twigg, Stephen R F; Robertson, Stephen P

Allelic diversity of the pharmacogenes CYP2D6 and CYP2C19 in Māori from Te Tairāwhiti, Aotearoa New Zealand

新西兰毛利人 Te Tairāwhiti 的药物基因 CYP2D6 和 CYP2C19 的等位基因多样性

Hitchman, Leonie; Kerekere, Te Whetu Aarahi; Miller, Allison L; Goodin, Elizabeth; Koia, Caroline; Watson, Huti; King, Frances; Robertson, Stephen P; Wilcox, Phillip; Kennedy, Martin A

Robert James McKinlay ("Mac") Gardner

罗伯特·詹姆斯·麦金利(“麦克”)·加德纳

Amor, David J; Storey, Elsdon; Robertson, Stephen P

Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand

拉凯奥拉基因组学平台:新西兰基因组医学研究的先行者

Rye, Claire E; Puketapu-Watson, Huti; Wihongi, Helen; Aika, Ben Te; Macartney-Coxson, Donia; de Ligt, Joep; Print, Cristin G; Le Quesne Stabej, Polona; Tsai, Peter; Curran, Ben; Jones, Nick; Huh, Jun; Perkins, E Owen; Pestle, Matt; Zhao, Kenny; Halytskyy, Yuriy; Robertson, Stephen P; Halliday, Benjamin J; Goodin, Elizabeth; Markie, David M; Lamont, Alastair; Wilcox, Phillip

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

KBG综合征神经影像学和骨骼特征的深度表型分析:一项包含53例患者的研究及文献综述

Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan

FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function

FLNA丝状蛋白病引起的骨骼表型并非由成骨细胞自主功能丧失所致。

Wade, Emma M; Goodin, Elizabeth A; Wang, Yongqiang; Morgan, Tim; Callon, Karen E; Watson, Maureen; Daniel, Philip B; Cornish, Jillian; McCulloch, Christopher A; Robertson, Stephen P

Nosology of genetic skeletal disorders: 2023 revision

遗传性骨骼疾病分类:2023年修订版

Unger, Sheila; Ferreira, Carlos R; Mortier, Geert R; Ali, Houda; Bertola, Débora R; Calder, Alistair; Cohn, Daniel H; Cormier-Daire, Valerie; Girisha, Katta M; Hall, Christine; Krakow, Deborah; Makitie, Outi; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen P; Savarirayan, Ravi; Sillence, David; Simon, Marleen; Sutton, V Reid; Warman, Matthew L; Superti-Furga, Andrea

The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2

新西兰儿童健康与福祉的现状及未来展望:第二部分

Moton, Tahirah Materoa; King, Paula Toko; Dalziel, Stuart R; Merry, Sally; Robertson, Stephen P; Day, Andrew S

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia

在患有LADD综合征和肺泡发育不全的家族中,FGF10基因最后两个外显子缺失

Wade, Emma M; Parthasarathy, Padmini; Mi, Jingyi; Morgan, Tim; Wollnik, Bernd; Robertson, Stephen P; Cundy, Tim