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

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome

患有沃尔夫-赫希霍恩综合征的胎儿出现肾发育不全和少巨肾

Bonasoni, Maria Paola; Pati, Mariangela; Shah, Khush; Musarò, Andrea; Blasi, Immacolata; Vanacore, Flavio; Botticelli, Giovanna; Barbieri, Veronica; Bizzarri, Veronica; Marinelli, Maria; Foroni, Moira; Aguzzoli, Lorenzo; Pollazzon, Marzia

3-M syndrome: evolution of the phenotype over time

3-M综合征:表型随时间演变

Bacchi, Isabelle; Vandelli, Sara; Coccia, Emanuele; Giannini, Lucrezia; Zuntini, Roberta; Teneggi, Rachele; Caraffi, Stefano Giuseppe; Baroni, Maria Chiara; Contrò, Gianluca; Peruzzi, Adelaide; Ambrosetti, Irene; Pollazzon, Marzia; Sartori, Chiara; Lausch, Ekkehart; Matysiak, Uta; Gambini, Lucia; Gargano, Giancarlo; Orlando, Valeria; Novelli, Antonio; Iughetti, Lorenzo; Unger, Sheila; Superti-Furga, Andrea; Garavelli, Livia

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature

一名携带TCF20新变异的男孩:扩展表型及文献简述

Ziveri, Diletta; Cesaroni, Carlo Alberto; Contrò, Gianluca; Caraffi, Stefano Giuseppe; Ormitti, Francesca; Giannini, Lucrezia; Pantani, Agnese; Cavalli, Anna; Rizzi, Susanna; Pollazzon, Marzia; Frattini, Daniele; Fusco, Carlo

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related

胎儿超声检查中椎骨骨密度异常:脊椎腕跗骨融合综合征MYH3相关疾病的独特临床表现

Blasi, Immacolata; Pollazzon, Marzia; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Comitini, Giuseppina; Bonasoni, Maria Paola; Daolio, Jessica; Unger, Sheila; Aguzzoli, Lorenzo; Superti-Furga, Andrea; Garavelli, Livia

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

从医生和护理人员自我报告的两组DDX3X相关疾病数据中汲取的经验教训

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Geneviève, David

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature

临床实践新见解:由新生AHDC1基因变异引起的伴有高弓足、结膜黑变病和眼部不对称的夏-吉布斯综合征——病例报告及文献简述

Baga, Margherita; Ivanovski, Ivan; Contrò, Gianluca; Caraffi, Stefano Giuseppe; Spagnoli, Carlotta; Cesaroni, Carlo Alberto; Neri, Alberto; Peluso, Francesca; Pollazzon, Marzia; Garavelli, Livia; Fusco, Carlo

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

一名患有7q21.13-q21.3缺失(不包括DLX5/6基因)的患者出现手足分裂和耳聋

Ambrosetti, Irene; Bernardini, Laura; Pollazzon, Marzia; Giuffrida, Maria Grazia; Guida, Valentina; Peluso, Francesca; Baroni, Maria Chiara; Polizzi, Valeria; Napoli, Manuela; Rosato, Simonetta; Trimarchi, Gabriele; Gelmini, Chiara; Caraffi, Stefano Giuseppe; Wischmeijer, Anita; Frattini, Daniele; Novelli, Antonio; Garavelli, Livia

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

病例报告:FOXP1相关智力障碍综合征和运动过度症的表型扩展及其在与癫痫发作鉴别诊断中的作用

Cesaroni, Carlo Alberto; Pollazzon, Marzia; Mancini, Cecilia; Rizzi, Susanna; Cappelletti, Camilla; Pizzi, Simone; Frattini, Daniele; Spagnoli, Carlotta; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Niceta, Marcello; Radio, Francesca Clementina; Tartaglia, Marco; Garavelli, Livia; Fusco, Carlo

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

SYT1相关神经发育障碍表型扩展:病例报告及文献综述

Cesaroni, Carlo Alberto; Spagnoli, Carlotta; Baga, Margherita; Rizzi, Susanna; Frattini, Daniele; Caraffi, Stefano Giuseppe; Pollazzon, Marzia; Garavelli, Livia; Fusco, Carlo