E-LIB Suche - Ergebnisse für: Concolino, Paola

1

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/..

2

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/..

3

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/..

4

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/..

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

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/..

7

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/..

8

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/..

9

A commentary on the discrepancy between blood and tumour BR..:

De Paolis, Elisa ; Marchetti, Claudia ; Concolino, Paola...
BJOG: An International Journal of Obstetrics & Gynaecology. 129 (2022) 9 - p. 1422-1426 , 2022

Link: https://doi.org/10.1111/..

10

BRCA Mutation Status in Triple-Negative Breast Cancer Patie..:

Pavese, Francesco ; Capoluongo, Ettore Domenico ; Muratore, Margherita...
Cancers. 14 (2022) 19 - p. 4571 , 2022

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

11

Prevalence of CAH-X Syndrome in Italian Patients with Conge..:

Paragliola, Rosa Maria ; Perrucci, Alessia ; Foca, Laura..
Journal of Clinical Medicine. 11 (2022) 13 - p. 3818 , 2022

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

12

CAH-X Syndrome: Genetic and Clinical Profile:

Concolino, Paola ; Falhammar, Henrik
Molecular Diagnosis & Therapy. 26 (2022) 3 - p. 293-300 , 2022

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

13

A Novel GCK Large Genomic Rearrangement in a Patient with M..:

Concolino, Paola ; Tartaglione, Linda ; De Paolis, Elisa...
Genes. 13 (2022) 11 - p. 2104 , 2022

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

14

Corte Di Strasburgo e Giustizia Penale:

Ubertis, Giulio ; Viganò, Francesco ; Zacche', Francesco... , 2022

Link: https://search.ebscohost..

15

Characteristics of In2G Variant in Congenital Adrenal Hyper..:

Kocova, Mirjana ; Concolino, Paola ; Falhammar, Henrik
Frontiers in Endocrinology. 12 (2022) - p. , 2022

Link: https://doi.org/10.3389/..