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

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

由同义ADSL变异引起的腺苷酸琥珀酸裂解酶缺乏症的严重产前表现,该变异导致异常剪接

Klapperich, Aysegül; Skopova, Vaclava; Karakaya, Mert; Velmans, Clara; Netzer, Christian; Strizek, Brigitte; Mrazova, Lenka Steiner; Zikanova, Marie

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

ELMO2相关骨内血管畸形:新病例及其新的致病变异、临床随访和治疗方法

Karakaya, Mert; Ragab, Iman; Riehmer, Vera; Erger, Florian; Aly, Nihal Hussien; Ryu, Seung Woo; Seo, Go Hun; Hoemberg, Marc; Schultheis, Anne Maria; Netzer, Christian; Decarolis, Boris

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans

GRHL2基因单倍体不足与人类唇腭裂有关

Curtis, Sarah W; Yang, Cinderella; Sanchis-Juan, Alba; Singleton, Katherine; Beaty, Terri H; Erger, Florian; Epstein, Michael P; Feingold, Eleanor; Krause, Max; Moreno Uribe, Lina M; Netzer, Christian; Padilla, Carmencita D; Shaffer, John R; Weinberg, Seth M; Carlson, Jenna C; Velmans, Clara; Murray, Jeffrey C; Dworkin, Seb; Marazita, Mary L; Brand, Harrison; Leslie-Clarkson, Elizabeth J

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects

与儿童肠道假性梗阻 (PIPO) 和脑发育缺陷相关的新型 KIF26A 变异

Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB

由PDGFRB基因中新型激活型伊马替尼反应性变异引起的角膜婴儿型肌纤维瘤病

Howaldt, Antonia; Lenglez, Sandrine; Velmans, Clara; Schultheis, Anne Maria; Clahsen, Thomas; Matthaei, Mario; Kohlhase, Jürgen; Vokuhl, Christian; Büttner, Reinhard; Netzer, Christian; Demoulin, Jean-Baptiste; Cursiefen, Claus

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta

TAPT1——成骨不全症中细胞外基质和信号传导的交汇点

Etich, Julia; Semler, Oliver; Stevenson, Nicola L; Stephan, Alice; Besio, Roberta; Garibaldi, Nadia; Reintjes, Nadine; Dafinger, Claudia; Liebau, Max Christoph; Baumann, Ulrich; Mörgelin, Matthias; Forlino, Antonella; Stephens, David J; Netzer, Christian; Zaucke, Frank; Rehberg, Mirko

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

奥唐奈-卢里亚-罗丹综合征:第二个多国队列的描述及表型谱的完善

Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-Them, Frederic; Vitobello, Antonio; Chan, Marcus Cy; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid M B H; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian H Y; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian

Carrier testing for autosomal recessive disorders: a look at current practice in Germany

常染色体隐性遗传病携带者检测:德国现状概览

Netzer, Christian; Velmans, Clara; Erger, Florian; Schreml, Julia