E-LIB Suche - Ergebnisse für: Cristofoli, Francesca

1

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/..

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

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/..

4

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/..

5

Novel CASK mutations 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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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..

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/1..

15

Variant Selection and Interpretation: An Example of Modifie..:

Cristofoli, Francesca ; Sorrentino, Elisa ; Guerri, Giulia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700904/. , 2021

Link: http://www.ncbi.nlm.nih...