E-LIB Suche - Ergebnisse für: Concolino, Paola

1

Challenging Molecular Diagnosis of Congenital Adrenal Hyper..:

Concolino, Paola
Current Issues in Molecular Biology. 46 (2024) 5 - p. 4832-4844 , 2024

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

2

An integrated multi-tool analysis contributes elements to i..:

Sacco, Monica ; Testa, Maria Francesca ; Ferretti, Antonietta...
Journal of Thrombosis and Haemostasis. , 2024

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

3

Identification of a False-positive Multiplex Ligationdepend..:

Concolino, Paola ; De Paolis, Elisa ; Rinelli, Martina...
Annals of Laboratory Medicine. , 2024

Link: https://doi.org/10.3343/..

4

Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implicat..:

Concolino, Paola
Molecular Diagnosis & Therapy. 28 (2024) 2 - p. 215-224 , 2024

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

5

Identification and Molecular Characterization of a Novel La..:

Concolino, Paola ; De Paolis, Elisa ; Moffa, Simona...
Genes. 14 (2023) 6 - p. 1275 , 2023

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

6

Triple Genetic Diagnosis in a Patient with Late-Onset Leuko..:

Pasquetti, Domizia ; Gazzellone, Annalisa ; Rossi, Salvatore...
International Journal of Molecular Sciences. 25 (2023) 1 - p. 495 , 2023

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

7

Genetic Characterization of a Cohort of Italian Patients wi..:

Concolino, Paola ; Perrucci, Alessia ; Carrozza, Cinzia.
Molecular Diagnosis & Therapy. 27 (2023) 5 - p. 621-630 , 2023

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

8

Clinical Reasoning: A Young Man With Subacute Onset of Spas..:

Rossi, Salvatore ; Concolino, Paola ; Di Natale, Daniele...
Neurology. 100 (2023) 4 - p. 199-205 , 2023

Link: https://doi.org/10.1212/..

9

Next-Generation Sequencing for Screening Analysis of Cystic..:

De Paolis, Elisa ; Tilocca, Bruno ; Lombardi, Carla...
Genes. 14 (2023) 8 - p. 1608 , 2023

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

10

Next-Generation Sequencing for Screening Analysis of Cystic..:

Elisa De Paolis ; Bruno Tilocca ; Carla Lombardi...
https://www.mdpi.com/2073-4425/14/8/1608. , 2023

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

11

Identification and Molecular Characterization of a Novel La..:

Concolino, Paola ; De Paolis, Elisa ; Moffa, Simona...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298720/. , 2023

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

12

Identification and Molecular Characterization of a Novel La..:

Paola Concolino ; Elisa De Paolis ; Simona Moffa...
Genetic Diagnosis. , 2023

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

13

Triple Genetic Diagnosis in a Patient with Late-Onset Leuko..:

Pasquetti, Domizia ; Gazzellone, Annalisa ; Rossi, Salvatore...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10778870/. , 2023

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

14

Identification and Molecular Characterization of a Novel La..:

Paola Concolino ; Elisa De Paolis ; Simona Moffa...
https://www.mdpi.com/2073-4425/14/6/1275. , 2023

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

15

Triple Genetic Diagnosis in a Patient with Late-Onset Leuko..:

Domizia Pasquetti ; Annalisa Gazzellone ; Salvatore Rossi...
https://www.mdpi.com/1422-0067/25/1/495. , 2023

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