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M

M. Crippa

research laboratory of medical cytogenetics and molecular genetics
H指数:15
被引数:646

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders
HUMAN GENETICS
IF3.6
2019-02-2629
OAAI
Negri, Gloria; Magini, Pamela; Milani, Donatella; Crippa, Milena; Biamino, Elisa; Piccione, Maria; Sotgiu, Stefano; Perria, Chiara; Vitiello, Giuseppina; Frontali, Marina; Boni, Antonella; Di Fede, Elisabetta; Gandini, Maria Chiara; Colombo, Elisa Adele; Bamshad, Michael J.; Nickerson, Deborah A.; Smith, Joshua D.; Loddo, Italia; Finelli, Palma; Seri, Marco; Pippucci, Tommaso; Larizza, Lidia; Gervasini, Cristina
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

从全基因缺失到EP300-Positive rubinstein-taybi患者的点突变: 对突变谱和特殊临床特征的新见解

HUMAN MUTATION
IF3.7
2015-11-0439
OAAI
Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina

研究方向

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P
Palma Finelli
H 指数:35论文数:145被引数:3,648
L
Lidia Larizza
H 指数:60论文数:550被引数:1.1万
I
Ilaria Bestetti
H 指数:11论文数:35被引数:291
D
Donatella Milani
H 指数:36论文数:241被引数:4,646
M
Maria Teresa Bonati
H 指数:19论文数:83被引数:1,667
A
Alessandra Sironi
H 指数:9论文数:20被引数:255
T
Tommaso Pippucci
H 指数:42论文数:171被引数:5,644
C
Cristina Gervasini
H 指数:36论文数:304被引数:4,178
S
Silvia Russo
H 指数:46论文数:234被引数:7,517
P
Pamela Magini
H 指数:28论文数:84被引数:2,772