E-LIB Suche - Ergebnisse für: Garavelli, Livia

1

Genetic Epilepsies and Developmental Epileptic Encephalopat..:

Cavirani, Benedetta ; Spagnoli, Carlotta ; Caraffi, Stefano Giuseppe...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1248 , 2024

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

2

A novel TRIP4 Variant Associated with Peripheral Neuropathy..:

Frongia, Ivana ; Spagnoli, Carlotta ; Rizzi, Susanna...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 213-219 , 2024

Link: https://doi.org/10.3233/..

3

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics. 32 (2024) 6 - p. 619-629 , 2024

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

4

Heterozygous truncating variant of TAOK1 in a boy with peri..:

Cavalli, Anna ; Caraffi, Stefano Giuseppe ; Rizzi, Susanna...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

5

Case Report: Sequential postzygotic HRAS mutation and gains..:

Zuntini, Roberta ; Cattani, Chiara ; Pedace, Lucia...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

6

Identification of bi‐allelic LFNG variants in three patient..:

Lecca, Mauro ; Bedeschi, Maria Francesca ; Izzi, Claudia...
Clinical Genetics. 104 (2023) 2 - p. 230-237 , 2023

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

7

Severe Neurodevelopmental Disorder in Autosomal Recessive S..:

Cesaroni, Carlo Alberto ; Pisanò, Giulia ; Trimarchi, Gabriele...
The Cerebellum. , 2023

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

8

Case report: Expanding the phenotype of FOXP1-related intel..:

Cesaroni, Carlo Alberto ; Pollazzon, Marzia ; Mancini, Cecilia...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

9

Developmental and epileptic encephalopathy in a young Itali..:

Rossi, Jessica ; Russo, Marco ; Gobbi, Giuseppe...
Brain and Development. 45 (2023) 8 - p. 445-450 , 2023

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

10

Diprosopus: A Rare Case of Craniofacial Duplication and a S..:

Trevisani, Viola ; Balestri, Eleonora ; Napoli, Manuela...
Genes. 14 (2023) 9 - p. 1745 , 2023

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

11

A Particular Case of Autosomal Recessive Progressive Symmet..:

Gelmetti, Alessandra ; Besagni, Francesca ; Garavelli, Livia...
Journal of Rare Diseases and Orphan Drugs. 4 (2023) - p. 10-18 , 2023

Link: https://doi.org/10.36013..

12

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:

Ambrosetti, Irene ; Bernardini, Laura ; Pollazzon, Marzia...
Genes. 14 (2023) 8 - p. 1526 , 2023

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

13

The Enigmatic Genetic Landscape of Hereditary Hearing Loss:..:

Spedicati, Beatrice ; Santin, Aurora ; Nardone, Giuseppe Giovanni...
Biomedicines. 11 (2023) 3 - p. 703 , 2023

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

14

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes. 14 (2023) 3 - p. 549 , 2023

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

15

Clinical and Molecular Diagnosis of Osteocraniostenosis in ..:

Rosato, Simonetta ; Unger, Sheila ; Campos-Xavier, Belinda...
Genes. 13 (2022) 2 - p. 261 , 2022

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