Berardo Rinaldi

foundation irccs ca'granda ospedale maggiore policlinico

H指数:12

被引数:506

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

产前外显子测序：何时诊断率能达到临床实用性？

Genes

IF2.8

2026-01-020

OAAI

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

双等位基因NEXN变异与胎儿发病扩张型心肌病: 两例独立病例报告和文献修订

ITALIAN JOURNAL OF PEDIATRICS

IF3.1

2024-08-260

OAAI

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

BRAIN

IF11.7

2023-12-012

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.

Ocular features in Williams-Beuren syndrome: a review of the literature

CURRENT OPINION IN OPHTHALMOLOGY

IF2.6

2023-08-171

PRE

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

AMPA受体GluA3的功能障碍与人类的攻击行为有关

MOLECULAR PSYCHIATRY

IF10.1

2022-06-1313

PRE

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant