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Musante, Luciana
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Preferred name
Musante, Luciana
Main Affiliation
Email
luciana.musante@burlo.trieste.it
ORCID
Scopus Author ID
7004087855
Researcher ID
AAA-5726-2021
Research Output
Now showing 1 - 5 of 5
- PublicationSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
;Gasparini Paolo Gruppo ;Radio Francesca Clementina ;Pang Kaifang ;Ciolfi Andrea ;Levy Michael A. ;Hernández-García Andrés ;Pedace Lucia ;Pantaleoni Francesca ;Liu Zhandong ;de Boer Elke ;Jackson Adam ;Bruselles Alessandro ;McConkey Haley ;Stellacci Emilia ;Lo Cicero Stefania ;Motta Marialetizia ;Carrozzo Rosalba ;Dentici Maria Lisa ;McWalter Kirsty ;Desai Megha ;Monaghan Kristin G. ;Telegrafi Aida ;Philippe Christophe ;Vitobello Antonio ;Au Margaret ;Grand Katheryn ;Sanchez-Lara Pedro A. ;Baez Joanne ;Lindstrom Kristin ;Kulch Peggy ;Sebastian Jessica ;Madan-Khetarpal Suneeta ;Roadhouse Chelsea ;MacKenzie Jennifer J. ;Monteleone Berrin ;Saunders Carol J. ;Jean Cuevas July K. ;Cross Laura ;Zhou Dihong ;Hartley Taila ;Sawyer Sarah L. ;Monteiro Fabíola Paoli ;Secches Tania Vertemati ;Kok Fernando ;Schultz-Rogers Laura E.; ; ; ; ;Dallapiccola BrunoTartaglia Marco - PublicationThe Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
; ; ; ; ; ; ; ;Giulia Ragusa ;Emmanouil Athanasakis; ; ; - PublicationChallenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
;Beatrice Spedicati; ; ; ; ;Aurora Santin ;Giuseppe Giovanni Nardone; ; - PublicationTTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
; ; ;Kolja Meier ;Hoda Tomoum ;Paria Najarzadeh Torbati ;Edward Blair ;Sally North ;Jutta Gärtner ;Susann Diegmann ;Mehran Beiraghi Toosi ;Farah Ashrafzadeh ;Ehsan Ghayoor Karimiani ;David Murphy; ; ; ; ;Agnese Feresin; ; ; ; - PublicationExpanding Phenotype of Poirier¿Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
;Alessandro Orsini ;Andrea Santangelo ;Francesca Bravin ;Alice Bonuccelli ;Diego Peroni ;Roberta Battini ;Thomas Foiadelli ;Veronica Bertini ;Angelo Valetto ;Michele Iacomino ;Vincenzo Nigro ;Anna Laura Torella ;Marcello Scala ;Valeria Capra ;Maria Stella Vari ;Anna Fetta ;Veronica Di Pisa ;Francesca Montanari ;Roberta Epifanio ;Paolo Bonanni ;Roberto Giorda ;Francesca Operto ;Grazia Pastorino ;Esra Sarigecili ;Esra Sardaroglu ;Cetin Okuyaz ;Sevgan Bozdogan; ; ; ;Alessandro Ferretti ;Federico Vigevano ;Pasquale StrianoDuccio Maria Cordelli