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

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors

先天性高胰岛素血症性低血糖症伴有新的HADH基因突变和胰腺GLP-1受体过度表达

Widmer, Andrea; Zumsteg, Urs; Szinnai, Gabor; Filges, Isabel; Meier, Stephanie; De Geyter, Julie; Antwi, Kwadwo; Wild, Damian; Nuoffer, Jean-Marc; Christ, Emanuel

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

作者更正:人类纤毛病蛋白RSG1将CPLANE复合物与过渡区结构连接起来。

Vazquez, Neftalí; Lee, Chanjae; Valenzuela, Irene; Phan, Thao P; Derderian, Camille; Chávez, Marcelo; Mooney, Nancie A; Demeter, Janos; Aziz-Zanjani, Mohammad Ovais; Cusco, Ivon; Codina, Marta; Martínez-Gil, Núria; Valverde, Diana; Solarat, Carlos; Bruel, Ange-Line; Thauvin-Robinet, Cristel; Steichen, Elisabeth; Filges, Isabel; Joset, Pascal; De Geyter, Julie; Vaidyanathan, Krishna; Gardner, Tynan P; Toriyama, Michinori; Marcotte, Edward M; Drew, Kevin; Roberson, Elle C; Jackson, Peter K; Reiter, Jeremy F; Tizzano, Eduardo F; Wallingford, John B

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

人类纤毛病蛋白 RSG1 将 CPLANE 复合物与过渡区结构连接起来

Vazquez Neftalí, Lee Chanjae, Valenzuela Irene, Phan Thao P, Derderian Camille, Chávez Marcelo, Mooney Nancie A, Demeter Janos, Aziz-Zanjani Mohammad Ovais, Cusco Ivon, Codina Marta, Martínez-Gil Núria, Valverde Diana, Solarat Carlos, Buel Ange-Line, Thauvin-Robinet Cristel, Steichen Elisabeth, Filges Isabel, Joset Pascal, De Geyter Julie, Vaidyanathan Krishna, Gardner Tynan P, Toriyama Michinori, Marcotte Edward M, Drew Kevin, Roberson Elle C, Jackson Peter K, Reiter Jeremy F, Tizzano Eduardo F, Wallingford John B

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study

先天性多发性关节挛缩症 (AMC) 与孕前及孕期咨询:一项问卷调查研究

Arduç, Arda; Slootbeek, Julia; de Vries, Johanna I P; Tan-Sindhunata, Maria B; Stoelinga, Femke; Sawatzky, Bonita; Filges, Isabel; Linskens, Ingeborg H

Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita

罕见先天性疾病的人类表型本体注释:以先天性多发性关节挛缩症为例

Nematollahi, Shahrzad; Hamdy, Reggie C; van Bosse, Harold; Li, Joyce; Blanshay-Goldberg, Daniel; de Vries, Johanna I P; Dieterich, Klaus; Filges, Isabel; Bedard, Tanya; Haendel, Melissa; Torres, Monica Munoz; Robinson, Peter N; Dahan-Oliel, Noémi

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

SwissGenVar:一个用于临床级基因变异解读的平台,旨在促进瑞士的个性化医疗

Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

人类纤毛病蛋白RSG1将CPLANE复合物与过渡区结构连接起来。

Vazquez, Neftalí; Lee, Chanjae; Valenzuela, Irene; Phan, Thao P; Derderian, Camille; Chávez, Marcelo; Mooney, Nancie A; Demeter, Janos; Aziz-Zanjani, Mohammad Ovais; Cusco, Ivon; Codina, Marta; Martínez-Gil, Núria; Valverde, Diana; Solarat, Carlos; Buel, Ange-Line; Thauvin-Robinet, Cristel; Steichen, Elisabeth; Filges, Isabel; Joset, Pascal; De Geyter, Julie; Vaidyanathan, Krishna; Gardner, Tynan; Toriyama, Michinori; Marcotte, Edward M; Roberson, Elle C; Jackson, Peter K; Reiter, Jeremy F; Tizzano, Eduardo F; Wallingford, John B

'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland

“简直是噩梦”:儿童全基因组测序中的知情同意。一项来自德国和瑞士的定性专家访谈研究

Eichinger, Johanna; Zimmermann, Bettina; Elger, Bernice; McLennan, Stuart; Filges, Isabel; Koné, Insa

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

产前表型分析:一项旨在增强人类表型本体论的社区努力

Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P; Filges, Isabel; Sparks, Teresa N; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C; Collardeau-Frachon, Sophie; Dempsey, Esther A; Dufke, Andreas; Duyzend, Michael Henri; El Ghosh, Mirna; Giordano, Jessica L; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G; Ladewig, Markus S; Munoz-Torres, Monica C; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A; Wapner, Ronald J; Zemet, Roni; Haendel, Melissa A; Robinson, Peter N