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

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications

儿童钙信号传导内分泌紊乱:神经内分泌串扰及其临床意义

Paparella, Roberto; Pastore, Francesca; Marchetti, Lavinia; Bei, Arianna; Bernabei, Irene; Iafrate, Norma; Maglione, Vittorio; Niceta, Marcello; Zambrano, Anna; Celli, Mauro; Fiore, Marco; Pucarelli, Ida; Tarani, Luigi

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization

非综合征型视网膜色素变性中一种新的杂合ARL3变异:临床和功能特征

Stellacci, Emilia; Ziccardi, Lucia; Bruselles, Alessandro; Dell'Aquila, Carmen; Mignini, Luca; Niceta, Marcello; Chiriatti, Luigi; Carvetta, Mattia; Zara, Erika; Leone, Alessandro; Cecchetti, Serena; Coppola, Simona; Parisi, Vincenzo; Tartaglia, Marco; Cordeddu, Viviana

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

Water-Soluble Vitamins: Hypo- and Hypervitaminosis in Pediatric Population

水溶性维生素:儿童人群中的维生素缺乏症和维生素过量症

Paparella, Roberto; Panvino, Fabiola; Leonardi, Lucia; Pucarelli, Ida; Menghi, Michela; Micangeli, Ginevra; Tarani, Francesca; Niceta, Marcello; Rasio, Debora; Pancheva, Rouzha; Fiore, Marco; Tarani, Luigi

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic Perspectives

儿童和青少年催产素缺乏症:临床特征、诊断挑战和治疗前景

Paparella, Roberto; Bei, Arianna; Bernabei, Irene; Fiorentini, Cinzia; Iafrate, Norma; Lucibello, Roberta; Marchetti, Lavinia; Pastore, Francesca; Maglione, Vittorio; Niceta, Marcello; Fiore, Marco; Caronti, Brunella; Vitali, Mario; Pucarelli, Ida; Tarani, Luigi

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles

TUBB2B 基因中的 p.Ile202Thr 替换可能与先天性眼外肌纤维化的综合征表现相关。

Mancini, Cecilia; Chiriatti, Luigi; Bruselles, Alessandro; D'ambrosio, Paola; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Carvetta, Mattia; Radio, Francesca Clementina; Cordeddu, Viviana; Niceta, Marcello; Parrino, Marta; Capolino, Rossella; Mammì, Corrado; Senese, Rossana; Muto, Mario; Priolo, Manuela; Tartaglia, Marco

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients

非典型先天性肾上腺皮质增生症的内分泌特征之外:儿科和青少年患者的心理神经社会视角叙述性综述

Paparella, Roberto; Panvino, Fabiola; Pucarelli, Ida; Niceta, Marcello; Spaziani, Matteo; Spalice, Alberto; Pisani, Francesco; Ardizzone, Ignazio; Tarani, Luigi

Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights

基因组时代特发性矮小症:整合生长发育学、内分泌学和新兴遗传学见解

Paparella, Roberto; Bei, Arianna; Bernabei, Irene; Tarani, Francesca; Niceta, Marcello; Pucarelli, Ida; Tarani, Luigi

Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing

青春期神经营养调控:从分子信号传导到青春期发育时机紊乱

Paparella, Roberto; Iafrate, Norma; Lucibello, Roberta; Bei, Arianna; Bernabei, Irene; Fiorentini, Cinzia; Marchetti, Lavinia; Pastore, Francesca; Maglione, Vittorio; Niceta, Marcello; Fiore, Marco; Venditti, Sabrina; Pucarelli, Ida; Tarani, Luigi