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Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations

Pangrazio, Alessandra; Pusch, Michael; Caldana, Elena; Frattini, Annalisa; Lanino, Edoardo; Tamhankar, Parag M.; Phadke, Shubha; Lopez, Antonio Gonzalez Meneses; Orchard, Paul; Mihci, Ercan; Abinun, Mario; Wright, Michael; Vettenranta, Kim; Bariæ, Ivo; Melis, Daniela; Tezcan, Ilhan; Baumann, Clarisse; Locatelli, Franco; Zecca, Marco; Horwitz, Edwin; Mansour, Lamia Sfaihi Ben; Van Roij, Mirjam; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina 

Tipo: Artículo
Año de Publicación: 2010
Volumen: 31
Número: 1
Páginas: E1071 - E1080
Acceso abierto: Vía bronce
Fuente Nº Citas Fecha Actualización
scopus7721-12-2024
wos6622-12-2024
Dimensions
PlumX
Altmetric

Año: 2010

Journal Impact Factor (JIF): 5.9560

CategoríaEdiciónPosiciónCuartilTercilDecil
GENETICS & HEREDITYSCIE18/156Q1T1D2

Año: 2017

Journal Citation Indicator (JCI): 1,450

CategoríaPosiciónCuartilTercilDecilPercentil
GENETICS & HEREDITY21/179Q1T1D288,55

Año:

2011

CiteScore:

10,400

CategoríaPosiciónCuartilTercilDecil
General Medicine169/3161Q1T1D1
Genetics25/283Q1T1D1
Genetics (clinical)8/85Q1T1D1

SJR año:

2010

Factor de Impacto:

3,163

CategoríaPosiciónCuartilTercilDecil
Genetics (clinical)9/93Q1T1D1
Genetics35/311Q1T1D2
No existen datos para la revista de esta publicación.
Agencia Código de Proyecto
Fondazione CariploJTC 2007
Fondazione TelethonGGP08176; GGP08064
Ministry of Health-
Ministry of Science, Education and Sport of Republic of Croatia108-1081870-1885
MIURRBIN04CHXT
N.O.B.E.L. (Network Operativo per la Biomedicina di Eccellenza in Lombardia)-
Nota: los datos sobre financiación provienen de la WOS
# Autor Afiliación
1Pangrazio, AlessandraConsiglio Nazionale delle Ricerche; Humanitas Research Hospital (Italy)
2Pusch, MichaelConsiglio Nazionale delle Ricerche (Italy)
3Caldana, ElenaConsiglio Nazionale delle Ricerche; Humanitas Research Hospital (Italy)
4Frattini, AnnalisaConsiglio Nazionale delle Ricerche (Italy)
5Lanino, EdoardoIRCCS Istituto Giannina Gaslini - Ospedale Pediatrico (Italy)
6Tamhankar, Parag M.Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow (India)
7Phadke, ShubhaSanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow (India)
8Lopez, Antonio Gonzalez MenesesHospital Universitario Virgen del Rocío (Spain)
9Orchard, PaulUniversity of Minnesota Twin Cities (United States)
10Mihci, ErcanAkdeniz Üniversitesi (Turkey)
11Abinun, MarioNewcastle University, United Kingdom (United Kingdom)
12Wright, MichaelNorthern Genetics Service (United Kingdom)
13Vettenranta, KimTampereen Yliopisto (Finland)
14Bariæ, IvoUniversity of Zagreb School of Medicine (Croatia)
15Melis, DanielaUniversità degli Studi di Napoli Federico II (Italy)
16Tezcan, IlhanHacettepe Children's Hospital (Turkey)
17Baumann, ClarisseHôpital Robert-Debré AP-HP (France)
18Locatelli, FrancoUniversità degli Studi di Pavia (Italy)
19Zecca, MarcoUniversità degli Studi di Pavia (Italy)
20Horwitz, EdwinThe Children's Hospital of Philadelphia (United States)
21Mansour, Lamia Sfaihi BenCHU Hedi-Chaker (Tunisia)
22Van Roij, MirjamAmsterdam UMC - Vrije Universiteit Amsterdam (Netherlands)
23Vezzoni, PaoloConsiglio Nazionale delle Ricerche; Humanitas Research Hospital (Italy)
24Villa, AnnaConsiglio Nazionale delle Ricerche; Humanitas Research Hospital (Italy)
25Sobacchi, Cristina Consiglio Nazionale delle Ricerche; Humanitas Research Hospital (Italy)