E-LIB Suche - Ergebnisse für: Torres, Barbara

1

PrenatalCFAP53-related laterality defect: case report and r..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Novelli, Antonio...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

2

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

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

3

Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Torres, Barbara...
Genes. 14 (2023) 12 - p. 2157 , 2023

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

4

Mosaic genome‐wide paternal uniparental disomy after discor..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1101-1106 , 2023

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

5

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The C..:

Nardecchia, Francesca ; Caciotti, Anna ; Giovanniello, Teresa...
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4422 , 2022

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

6

Case Report: A Novel Homozygous Missense Variant of FBN3 Su..:

Genovesi, Maria Luce ; Torres, Barbara ; Goldoni, Marina...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

7

Exome sequencing efficacy and phenotypic expansions involvi..:

Sy, Mary R. ; Chauhan, Jaynee ; Prescott, Katrina...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3492-3504 , 2022

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

8

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hyp..:

Sciacchitano, Salvatore ; De Francesco, Gian Paolo ; Piane, Maria...
Diagnostics. 12 (2022) 12 - p. 2997 , 2022

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

9

Retinoic acid-induced 1 gene haploinsufficiency alters lipi..:

Turco, Elisa Maria ; Giovenale, Angela Maria Giada ; Sireno, Laura...
Cell Death & Disease. 13 (2022) 11 - p. , 2022

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

10

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Le..:

Giuffrida, Maria Grazia ; Goldoni, Marina ; Genovesi, Maria Luce...
Diagnostics. 12 (2022) 10 - p. 2354 , 2022

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

11

Chromosomal Microarray Analysis in Fetuses Detected with Is..:

Mastromoro, Gioia ; Khaleghi Hashemian, Nader ; Guadagnolo, Daniele...
Diagnostics. 12 (2022) 6 - p. 1328 , 2022

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

12

Germline Predisposition to Pediatric Cancer, from Next Gene..:

Gargallo, Pablo ; Oltra, Silvestre ; Yáñez, Yania...
Cancers. 13 (2021) 21 - p. 5339 , 2021

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

13

Generation of an induced pluripotent stem cell line (CSS012..:

D'Anzi, Angela ; Altieri, Filomena ; Perciballi, Elisa...
Stem Cell Research. 53 (2021) - p. 102356 , 2021

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

14

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of ..:

Farnè, Marianna ; Bernardini, Laura ; Capalbo, Anna...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 692-707 , 2021

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

15

Small 7p22.3 microdeletion: Case report of Snx8 haploinsuff..:

Mastromoro, Gioia ; Capalbo, Anna ; Guido, Cristiana Alessia...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103772 , 2020

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