受强制性开放获取政策约束的文章 - Francesco Calì了解详情
无法在其他位置公开访问的文章：3 篇
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
L Vetri, F Calì, M Vinci, C Amato, M Roccella, T Granata, E Freri, R Solazzi, ...
European Journal of Medical Genetics 63 (4), 103848, 2020
强制性开放获取政策： Government of Italy
GRIN2A: involvement in movement disorders and intellectual disability without seizures
AG Nicotera, F Calì, M Vinci, SA Musumeci
Neurological Sciences 40 (11), 2405-2406, 2019
强制性开放获取政策： Government of Italy
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
C Schepis, P Failla, M Siragusa, V Chiavetta, G Ruggeri, F Calì
European Journal of Dermatology 28 (1), 119-120, 2018
强制性开放获取政策： Government of Italy
可在其他位置公开访问的文章：27 篇
Ancient human genomes suggest three ancestral populations for present-day Europeans
I Lazaridis, N Patterson, A Mittnik, G Renaud, S Mallick, K Kirsanow, ...
Nature 513 (7518), 409-413, 2014
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, German …
The role of recent admixture in forming the contemporary West Eurasian genomic landscape
GBJ Busby, G Hellenthal, F Montinaro, S Tofanelli, K Bulayeva, I Rudan, ...
Current biology 25 (19), 2518-2526, 2015
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council, UK Medical …
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
F Cali, V Chiavetta, G Ruggeri, M Piccione, A Selicorni, D Palazzo, ...
European journal of medical genetics 60 (2), 93-99, 2017
强制性开放获取政策： Government of Italy
Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation
M Marrale, NN Albanese, F Cali, V Romano
PLoS One 9 (3), e90947, 2014
强制性开放获取政策： Government of Italy
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily
S Tofanelli, F Brisighelli, P Anagnostou, GBJ Busby, G Ferri, MG Thomas, ...
European Journal of Human Genetics 24 (3), 429-436, 2016
强制性开放获取政策： UK Medical Research Council
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities
A Fallea, R Zuccarello, F Calì
BMC Oral Health 16, 1-6, 2016
强制性开放获取政策： Government of Italy
Sensory-adapted dental environment for the treatment of patients with autism spectrum disorder
A Fallea, R Zuccarello, M Roccella, G Quatrosi, S Donadio, L Vetri, F Calì
Children 9 (3), 393, 2022
强制性开放获取政策： Government of Italy
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic …
M Fichera, P Failla, L Saccuzzo, M Miceli, E Salvo, L Castiglia, O Galesi, ...
Human genetics 138, 187-198, 2019
强制性开放获取政策： Government of Italy
Interpreting genetic variants: hints from a family cluster of Parkinson’s disease
F Cali, M Cantone, FII Cosentino, G Lanza, G Ruggeri, V Chiavetta, ...
Journal of Parkinson's Disease 9 (1), 203-206, 2019
强制性开放获取政策： Government of Italy
Archaeogenetics and landscape dynamics in sicily during the Holocene: A review
V Romano, G Catalano, G Bazan, F Calì, L Sineo
Sustainability 13 (17), 9469, 2021
强制性开放获取政策： Government of Italy
A Customized Next‐Generation Sequencing‐Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
G Lanza, F Calì, M Vinci, FII Cosentino, M Tripodi, RS Spada, M Cantone, ...
Neural Plasticity 2020 (1), 8078103, 2020
强制性开放获取政策： Government of Italy
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma
F Calì, P Failla, M Vinci, M Siragusa, C Schepis
Dermatology online journal 26 (7), 2020
强制性开放获取政策： Government of Italy
Carrier screening for spinal muscular atrophy in Italian population
F Cali, G Ruggeri, V Chiavetta, C Scuderi, S Bianca, C Barone, ...
Journal of genetics 93 (1), 179-181, 2014
强制性开放获取政策： Government of Italy
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
A Musumeci, F Calì, C Scuderi, M Vinci, GA Vitello, SA Musumeci, ...
Biomedicines 10 (9), 2276, 2022
强制性开放获取政策： Government of Italy
Novel c. C2254T (p. Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
M Vinci, M Fichera, SA Musumeci, F Cali, GA Vitello
Journal of genetics 97 (5), 1469-1472, 2018
强制性开放获取政策： Government of Italy
Implementation of sample pooling procedure using a rapid SARS-CoV-2 diagnostic Real-Time PCR test performed prior to hospital admission of people with intellectual disabilities
A Musumeci, M Vinci, F L’Episcopo, A Ragalmuto, V Neri, M Roccella, ...
International Journal of Environmental Research and Public Health 18 (17), 9317, 2021
强制性开放获取政策： Government of Italy
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2
GA Vitello, C Federico, F Bruno, M Vinci, A Musumeci, A Ragalmuto, ...
International Journal of Molecular Sciences 23 (16), 9171, 2022
强制性开放获取政策： Government of Italy
出版信息和资助信息由计算机程序自动确定