E-LIB Suche - Ergebnisse für: Mattina, Teresa

1

Assortative mating and parental genetic relatedness contrib..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2015-2028 , 2023

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

2

Case Report: Decrypting an interchromosomal insertion assoc..:

Bonaglia, Maria Clara ; Salvo, Eliana ; Sironi, Manuela...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

3

Definition and clinical variability of SHANK3-related Phela..:

Schön, Michael ; Lapunzina, Pablo ; Nevado, Julián...
European Journal of Medical Genetics. 66 (2023) 7 - p. 104754 , 2023

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

4

Partial trisomy 21 with or without highlyrestricted Down sy..:

Pelleri, Maria Chiara ; Locatelli, Chiara ; Mattina, Teresa...
BMC Medical Genomics. 15 (2022) 1 - p. , 2022

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

5

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/..

6

Copy number variation analysis implicates novel pathways in..:

Guida, Valentina ; Sparascio, Francesca Piceci ; Bernardini, Laura...
Clinical Genetics. 100 (2021) 3 - p. 268-279 , 2021

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

7

When to test fetuses for RASopathies? Proposition from a sy..:

Scott, Alexandra ; Di Giosaffatte, Niccolò ; Pinna, Valentina...
Genetics in Medicine. 23 (2021) 6 - p. 1116-1124 , 2021

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

8

Regulatory, scientific, and ethical issues arising from ins..:

Benfatto, G. ; Longo, Laura ; Mansueto, Silvana...
BMC Medical Ethics. 22 (2021) 1 - p. , 2021

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

9

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:

Guida, Valentina ; Calzari, Luciano ; Fadda, Maria Teresa...
International Journal of Molecular Sciences. 22 (2021) 3 - p. 1190 , 2021

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

10

A case series of adult patients affected by EAST/SeSAME syn..:

Suzumoto, Yoko ; Columbano, Valeria ; Gervasi, Luciano...
Intractable & Rare Diseases Research. 10 (2021) 2 - p. 95-101 , 2021

Link: https://doi.org/10.5582/..

11

Deciphering the pathogenesis of the COL4‐related hematuric ..:

Uliana, Vera ; Sebastio, Paola ; Riva, Matteo...
Molecular Genetics & Genomic Medicine. 9 (2020) 2 - p. , 2020

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

12

Clinical correlates in children with autism spectrum disord..:

Barone, Rita ; Gulisano, Mariangela ; Amore, Renata...
International Journal of Developmental Neuroscience. 80 (2020) 4 - p. 276-286 , 2020

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

13

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2877-2886 , 2020

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

14

Familiar osteopoikilosis: Case report with differential dia..:

Gaudio, Agostino ; Xourafa, Anastasia ; Rapisarda, Rosario...
Clinical Case Reports. 9 (2020) 2 - p. 922-926 , 2020

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

15

A Customized Next-Generation Sequencing-Based Panel to Iden..:

Lanza, Giuseppe ; Calì, Francesco ; Vinci, Mirella...
Neural Plasticity. 2020 (2020) - p. 1-10 , 2020

Link: https://doi.org/10.1155/..