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

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

MTX2 缺失导致下颌骨发育不良,并将线粒体功能障碍与核形态改变联系起来

Sahar Elouej #, Karim Harhouri #, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig

Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

厄瓜多尔多机构遗传诊断经验:国家染色体变异和多态性登记处

Paz-Y-Miño, César; Yumiceba, Verónica; Moreta, Germania; Paredes, Rosario; Ruiz, Mónica; Ocampo, Ligia; Llamos Paneque, Arianne; Ochoa Pérez, Catalina; Ruiz-Cabezas, Juan Carlos; Álvarez Vidal, Jenny; Jiménez Torres, Idarmis; Vargas-Vera, Ramón; Cruz, Fernando; Guapi N, Víctor Hugo; Montalván, Martha; Meneses Álvarez, Sara; Garzón Castro, Maribel; Lamar Segura, Elizabeth; Recalde Báez, María Augusta; Naranjo, María Elena; Tambaco Jijón, Nina; Sinche, María; Licuy, Pedro; Burgos, Ramiro; Porras-Borja, Fabián; Echeverría-Garcés, Gabriela; Pérez-Villa, Andy; Armendáriz-Castillo, Isaac; García-Cárdenas, Jennyfer M; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; Leone, Paola E

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

一名幼儿患有叶状色素嵌合体和生殖器畸形,这是由 der(Y)t(Y;14) 诱发的 14 号染色体三体综合征所致。

Romero, V I; Pozo, J C; Saenz, S; Llamos-Paneque, A; Liehr, T; Hosomichi, K; Tajima, A

Novel EYA1 variants causing Branchio-oto-renal syndrome

导致鳃耳肾综合征的新型EYA1变异

Klingbeil, Kyle D; Greenland, Christopher M; Arslan, Selcuk; Llamos Paneque, Arianne; Gurkan, Hakan; Demir Ulusal, Selma; Maroofian, Reza; Carrera-Gonzalez, Andrea; Montufar-Armendariz, Stefany; Paredes, Rosario; Elcioglu, Nursel; Menendez, Ibis; Behnam, Mahdiyeh; Foster, Joseph 2nd; Guo, Shengru; Escarfuller, Sebastian; Cengiz, Filiz Basak; Duman, Duygu; Bademci, Guney; Tekin, Mustafa