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

Lessons learned from 40 novel PIGA patients and a review of the literature

从40例新型PIGA患者中汲取的经验教训及文献综述

Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R; Moura de Souza, Carolina Fischinger; Freihuber, Cécile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R; Korff, Christian M; Kragh Hansen, Johanne; Larsen, Martin; Layet, Valérie; Lesca, Gaetan; McBride, Kim L; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H; Skinner, Steven; Szczałuba, Krzysztoł; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A; Lal, Dennis; Gardella, Elena; Bomme Ousager, Lilian; Brünger, Tobias; Helbig, Ingo; Krawitz, Peter; Møller, Rikke S

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

21号染色体部分三体图谱:十例病例进一步支持人类21号染色体上高度局限的唐氏综合征关键区域(HR-DSCR)。

Pelleri, Maria Chiara; Cicchini, Elena; Petersen, Michael B; Tranebjaerg, Lisbeth; Mattina, Teresa; Magini, Pamela; Antonaros, Francesca; Caracausi, Maria; Vitale, Lorenza; Locatelli, Chiara; Seri, Marco; Strippoli, Pierluigi; Piovesan, Allison; Cocchi, Guido

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

单基因糖尿病综合征:Alström 综合征、Wolfram 综合征和硫胺素反应性巨幼细胞性贫血的基因位点特异性数据库

Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu-Wai-Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian-Hua; Chaussenot, Annabel; Nunes, Virginia; Marshall, Bess; McAfferty, Susan; Tillmann, Vallo; Maffei, Pietro; Paquis-Flucklinger, Veronique; Geberhiwot, Tarekign; Mlynarski, Wojciech; Parkinson, Kay; Picard, Virginie; Bueno, Gema Esteban; Dias, Renuka; Arnold, Amy; Richens, Caitlin; Paisey, Richard; Urano, Fumihiko; Semple, Robert; Sinnott, Richard; Barrett, Timothy G

Developing a policy for paediatric biobanks: principles for good practice

制定儿科生物样本库政策:良好实践原则

Hens, Kristien; Van El, Carla E; Borry, Pascal; Cambon-Thomsen, Anne; Cornel, Martina C; Forzano, Francesca; Lucassen, Anneke; Patch, Christine; Tranebjaerg, Lisbeth; Vermeulen, Eric; Salvaterra, Elena; Tibben, Aad; Dierickx, Kris

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

全基因组测序在医疗保健中的应用:欧洲人类遗传学会的建议

van El, Carla G; Cornel, Martina C; Borry, Pascal; Hastings, Ros J; Fellmann, Florence; Hodgson, Shirley V; Howard, Heidi C; Cambon-Thomsen, Anne; Knoppers, Bartha M; Meijers-Heijboer, Hanne; Scheffer, Hans; Tranebjaerg, Lisbeth; Dondorp, Wybo; de Wert, Guido M W R

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

EURO-WABB:欧盟罕见疾病登记处,涉及 Wolfram 综合征、Alström 综合征和 Bardet-Biedl 综合征

Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel Lopez; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjaerg, Lisbeth; Barrett, Timothy G

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

肾囊蛋白通过调节 Wnt/PCP 成分 Dishevelled 和 Rho GTP 酶,在肾上皮形态发生中发挥关键作用。

Worley, L G; Alvarez-Satta, M; Chiara, L De; Castro-Sánchez, S; Valverde, D; Schock, EN; Chang, CF; Struve, JN; Chang, J; Brugmann, SA; Falk, N; Kessler, K; Glöckner, J; Boldt, K; Ueffing, M; Roepman, R; Thiel, C; Brandstätter, JH; Gießl, A; Abdelhamed, Z; Natarajan, S; Inglehearn, C; Toomes, C; Johnson, C; Jagger, D; Lindbæk, L; Warzecha, CB; Koefoed, K; Mogensen, JB; Schmid, F; Pedersen, LB; Larsen, LA; Christensen, S; Blanchon, S; Bassinet, L; Beydon, N; Clément, A; Escudier, E; Papon, JF; Tamalet, A; Lucas, JS; Botting, NJ; DunnGalvin, A; Copeland, F; Barrett, T; Farmer, A; Aymé, S; Maffei, P; McCafferty, S; Mlynarski, W; Nunes, V; Paquis, V; Parkinson, K; Rohayem, J; Sinnott, R; Tillmann, V; Tranebjaerg, L; Cormier-Daire, V; Huber, C; Baujat, J; Caumes, R; Kayirangwa, H; Le Merrer, M; Le Quan Sang, KH; Munnich, A; Saunier, S; Gaudé, HM; Montjean, R; Silbermann, F; Grampa, V; Burcklé, C; Montenont, E; Delous, M; Vesque, C; Jeanpierre, C; Antignac, C; Terzi, F; Schneider-Maunoury, S

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

公共卫生框架下的基因检测与常见疾病:如何评估其相关性和可行性。欧洲人类遗传学会(ESHG)关于基因检测与常见疾病建议的背景文件

Becker, Frauke; van El, Carla G; Ibarreta, Dolores; Zika, Eleni; Hogarth, Stuart; Borry, Pascal; Cambon-Thomsen, Anne; Cassiman, Jean Jacques; Evers-Kiebooms, Gerry; Hodgson, Shirley; Janssens, A Cécile J W; Kaariainen, Helena; Krawczak, Michael; Kristoffersson, Ulf; Lubinski, Jan; Patch, Christine; Penchaszadeh, Victor B; Read, Andrew; Rogowski, Wolf; Sequeiros, Jorge; Tranebjaerg, Lisbeth; van Langen, Irene M; Wallace, Helen; Zimmern, Ron; Schmidtke, Jörg; Cornel, Martina C

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome

Marinesco-Sjögren 综合征中的新型 SIL1 突变和功能候选基因的排除

Anna-Kaisa Anttonen, Eija Siintola, Lisbeth Tranebjaerg, Nobue K Iwata, Emilia K Bijlsma, Hiroyuki Meguro, Yaeko Ichikawa, Jun Goto, Outi Kopra, Anna-Elina Lehesjoki

Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss

非综合征型常染色体显性遗传中频感音神经性听力损失的组织病理学

Bahmad, Fayez; O'Malley, Jennifer; Tranebjaerg, Lisbeth; Merchant, Saumil N