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

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature

间质性12p缺失综合征:修订的最小关键区域及文献综述

Privitera, Flavia; Pagano, Stefano; Cipriano, Lorenzo; Nutile, Giulia; Milone, Annarita; Santorelli, Filippo Maria

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2

卡布奇综合征2型新病例的癫痫痉挛和RNA分析

Privitera, Flavia; Meossi, Camilla; Santorelli, Filippo Maria; Bartolini, Emanuele

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

从三名患有不同形式的 HPDL 相关神经系统疾病的患者中生成和表征 hiPS 细胞系

Baggiani Matteo, Damiani Devid, Privitera Flavia, Della Vecchia Stefania, Tessa Alessandra, Santorelli Filippo Maria

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

SATB1功能缺失变异体中的非特异性癫痫活动、脑电图和脑成像:一例新病例报告及文献综述

Privitera, Flavia; Pagano, Stefano; Meossi, Camilla; Battini, Roberta; Bartolini, Emanuele; Montanaro, Domenico; Santorelli, Filippo Maria

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

APC相关表型与5q间质缺失患者的智力障碍:一例新病例及文献综述

Privitera, Flavia; Piccini, Flavia; Recalcati, Maria Paola; Presi, Silvia; Mazzola, Silvia; Carrera, Paola

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

神经元蜡样脂褐质沉积症杂合子易患双相情感障碍

Privitera, Flavia; Trusso, Maria A; Valentino, Floriana; Doddato, Gabriella; Fallerini, Chiara; Brunelli, Giulia; D'Aurizio, Romina; Furini, Simone; Goracci, Arianna; Fagiolini, Andrea; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca