E-LIB Suche - Ergebnisse für: Grillo, Lucia

1

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10..:

Norata, Davide ; Alonge, Paolo ; Grillo, Lucia...
Neurological Sciences. , 2023

Link: https://doi.org/10.1007/..

2

Dyslexia and Attention Deficit Hyperactivity Disorder Assoc..:

Galesi, Ornella ; Di Blasi, Francesco Domenico ; Grillo, Lucia...
Genes. 13 (2022) 11 - p. 1926 , 2022

Link: https://doi.org/10.3390/..

3

12q21 Interstitial Deletions: Seven New Syndromic Cases Det..:

Recalcati, Maria Paola ; Catusi, Ilaria ; Garzo, Maria...
Genes. 13 (2022) 5 - p. 780 , 2022

Link: https://doi.org/10.3390/..

4

Perspectives for the migration of the LHCb geometry to the ..:

Borghi, Silvia ; Burr, Chris ; Clemencic, Marco...
EPJ Web of Conferences. 214 (2019) - p. 02022 , 2019

Link: https://doi.org/10.1051/..

5

Mutations in ACTL6B, coding for a subunit of the neuron-spe..:

Fichera, Marco ; Failla, Pinella ; Saccuzzo, Lucia...
Human Genetics. 138 (2019) 2 - p. 187-198 , 2019

Link: https://doi.org/10.1007/..

6

Real-time alignment and reconstruction: performance and rec..:

Dziurda, Agnieszka ; Grillo, Lucia ; Polci, Francesco.
Journal of Physics: Conference Series. 1085 (2018) - p. 042003 , 2018

Link: https://doi.org/10.1088/..

7

A genotype-first approach identifies an intellectual disabi..:

Jansen, Sandra ; Hoischen, Alexander ; Coe, Bradley P....
European Journal of Human Genetics. 26 (2017) 1 - p. 54-63 , 2017

Link: https://doi.org/10.1038/..

8

Identification of novel mutations in L1CAM gene by a DHPLC-..:

Vinci, Mirella ; Falco, Michele ; Castiglia, Lucia...
Genes & Genomics. 38 (2016) 12 - p. 1159-1164 , 2016

Link: https://doi.org/10.1007/..

9

Increased FGF3 and FGF4 gene dosage is a risk factor for cr..:

Grillo, Lucia ; Greco, Donatella ; Pettinato, Rosa...
Gene. 534 (2014) 2 - p. 435-439 , 2014

Link: https://doi.org/10.1016/..

10

Definition of minimal duplicated region encompassing the XI..:

Di Benedetto, Daniela ; Musumeci, Sebastiano Antonino ; Avola, Emanuela...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 1923-1930 , 2014

Link: https://doi.org/10.1002/..

11

Familial 1q22 microduplication associated with psychiatric ..:

Fichera, Marco ; Barone, Rita ; Grillo, Lucia...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

12

Seizures and EEG pattern in the 22q13.3 deletion syndrome: ..:

Figura, Maria Grazia ; Coppola, Antonietta ; Bottitta, Maria...
Seizure. 23 (2014) 9 - p. 774-779 , 2014

Link: https://doi.org/10.1016/..

13

6p22.3 deletion: report of a patient with autism, severe in..:

Di Benedetto, Daniela ; Di Vita, Giuseppa ; Romano, Corrado...
Molecular Cytogenetics. 6 (2013) 1 - p. 4 , 2013

Link: https://doi.org/10.1186/..

14

An atypical patient with Cowden syndrome and PTEN gene muta..:

Elia, Maurizio ; Amato, Carmelo ; Bottitta, Maria...
Brain and Development. 34 (2012) 10 - p. 873-876 , 2012

Link: https://doi.org/10.1016/..

15

Molecular Mechanisms Generating and Stabilizing Terminal 22..:

Bonaglia, Maria Clara ; Giorda, Roberto ; Beri, Silvana...
PLoS Genetics. 7 (2011) 7 - p. e1002173 , 2011

Link: https://doi.org/10.1371/..