I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Cristofoli, Francesca
43
results:
Search for persons
X
Format
Online (43)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (28)
Languages
english (41)
italian (1)
Sorted by: Relevance
Sorted by: Year
?
1
Assessing the efficacy of an innovative diagnostic method f..:
Mareso, Chiara
;
Crosta, Luca
;
Giovanna De Vita, Mattia
...
Gene. , 2024
Link:
https://doi.org/10.1016/..
?
2
MAGI-ACMG: Algorithm for the Classification of Variants Acc..:
Cristofoli, Francesca
;
Daja, Muharrem
;
Maltese, Paolo Enrico
...
Genes. 14 (2023) 8 - p. 1600 , 2023
Link:
https://doi.org/10.3390/..
?
3
Towards a Long-Read Sequencing Approach for the Molecular D..:
Bonetti, Gabriele
;
Cozza, William
;
Bernini, Andrea
...
International Journal of Molecular Sciences. 24 (2023) 23 - p. 16881 , 2023
Link:
https://doi.org/10.3390/..
?
4
Spectral-Domain Optical Coherence Tomography Analysis in Sy..:
Colombo, Leonardo
;
Maltese, Paolo Enrico
;
Romano, Dario
...
Ophthalmic Research. 65 (2021) 2 - p. 180-195 , 2021
Link:
https://doi.org/10.1159/..
?
5
Variant Selection and Interpretation: An Example of Modifie..:
Cristofoli, Francesca
;
Sorrentino, Elisa
;
Guerri, Giulia
...
Genes. 12 (2021) 12 - p. 1885 , 2021
Link:
https://doi.org/10.3390/..
?
6
NovelCASKmutations in cases with syndromic microcephaly:
Cristofoli, Francesca
;
Devriendt, Koen
;
Davis, Erica E.
..
Human Mutation. 39 (2018) 7 - p. 993-1001 , 2018
Link:
https://doi.org/10.1002/..
?
7
Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology..:
Liang, Chen
;
Kerr, Alicia
;
Qiu, Yangfengzhong
...
Investigative Opthalmology & Visual Science. 58 (2017) 12 - p. 5485 , 2017
Link:
https://doi.org/10.1167/..
?
8
Polymerase specific error rates and profiles identified by ..:
Hestand, Matthew S.
;
Houdt, Jeroen Van
;
Cristofoli, Francesca
.
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 784-785 (2016) - p. 39-45 , 2016
Link:
https://doi.org/10.1016/..
?
9
CREBBP mutations in individuals without Rubinstein–Taybi sy..:
Menke, Leonie A.
;
van Belzen, Martine J.
;
Alders, Marielle
...
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2681-2693 , 2016
Link:
https://doi.org/10.1002/..
?
10
Genotypic and phenotypic variation in six patients with sol..:
Poelmans, Simon
;
Kawamoto, Tatsuro
;
Cristofoli, Francesca
...
American Journal of Medical Genetics Part A. 167 (2015) 10 - p. 2451-2458 , 2015
Link:
https://doi.org/10.1002/..
?
11
Coffin–Siris and Nicolaides–Baraitser syndromes are a commo..:
Mari, Francesca
;
Marozza, Annabella
;
Mencarelli, Maria Antonietta
...
Brain and Development. 37 (2015) 5 - p. 527-536 , 2015
Link:
https://doi.org/10.1016/..
?
12
No evidence of locus heterogeneity in familial microcephaly..:
Schlögel, Matthieu J
;
Mendola, Antonella
;
Fastré, Elodie
...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
?
13
A comprehensive molecular study on Coffin–Siris and Nicolai..:
Wieczorek, Dagmar
;
Bögershausen, Nina
;
Beleggia, Filippo
...
Human Molecular Genetics. 22 (2013) 25 - p. 5121-5135 , 2013
Link:
https://doi.org/10.1093/..
?
14
Towards a Long-Read Sequencing Approach for the Molecular D..:
Bonetti, Gabriele
;
Cozza, William
;
Bernini, Andrea
...
info:eu-repo/semantics/altIdentifier/pmid/38069202. , 2023
Link:
https://hdl.handle.net/2..
?
15
Towards a Long-Read Sequencing Approach for the Molecular D..:
Bonetti, Gabriele
;
Cozza, William
;
Bernini, Andrea
...
info:eu-repo/semantics/altIdentifier/pmid/38069202. , 2023
Link:
https://hdl.handle.net/1..
1-15