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Majore, Silvia
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1

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  11 - p. 100964 , 2023
Link: https://doi.org/10.1016/..
 
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2

Germline NUP98 Variants in Two Siblings with a Rothmund–Tho..:

Colombo, Elisa Adele ; Valiante, Michele ; Uggeri, Matteo...
International Journal of Molecular Sciences.  24 (2023)  4 - p. 4028 , 2023
Link: https://doi.org/10.3390/..
 
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3

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  10 - p. 100927 , 2023
Link: https://doi.org/10.1016/..
 
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4

A form of inherited hyperferritinemia associated with bi-al..:

Monfrini, Edoardo ; Pelucchi, Sara ; Hollmén, Maija...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1436-1443 , 2023
Link: https://doi.org/10.1016/..
 
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5

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics.  142 (2023)  6 - p. 785-808 , 2023
Link: https://doi.org/10.1007/..
 
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6

Two unrelated cases with biallelic CHEK2 variants:a novel c..:

Bottillo, Irene ; Savino, Emanuele ; Majore, Silvia...
European Journal of Human Genetics.  31 (2022)  4 - p. 474-478 , 2022
Link: https://doi.org/10.1038/..
 
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7

Congenital Defects in a Patient Carrying a Novel Homozygous..:

Di Giosaffatte, Niccolò ; Ferraris, Alessandro ; Gaudioso, Federica...
Genes.  13 (2022)  12 - p. 2358 , 2022
Link: https://doi.org/10.3390/..
 
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8

Clinical and Molecular Aspects of the Neurodevelopmental Di..:

Pascolini, Giulia ; Gaudioso, Federica ; Passarelli, Chiara...
Journal of Molecular Neuroscience.  71 (2021)  12 - p. 2474-2481 , 2021
Link: https://doi.org/10.1007/..
 
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9

Clinical presentation and molecular characterization of a n..:

Majore, Silvia ; Agolini, Emanuele ; Micale, Lucia...
Clinical Genetics.  99 (2021)  4 - p. 540-546 , 2021
Link: https://doi.org/10.1111/..
 
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10

A Single Center Retrospective Review of Patients from Centr..:

De Simone, Paola ; Bottillo, Irene ; Valiante, Michele...
International Journal of Molecular Sciences.  21 (2020)  24 - p. 9432 , 2020
Link: https://doi.org/10.3390/..
 
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11

Further delineation of the neurodevelopmental phenotypic sp..:

Pascolini, Giulia ; Agolini, Emanuele ; Fleischer, Nicole...
Neurological Sciences.  41 (2020)  12 - p. 3751-3753 , 2020
Link: https://doi.org/10.1007/..
 
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12

The p.Arg377Trp variant in ACTL6A underlines a recognizable..:

Pascolini, Giulia ; Agolini, Emanuele ; Novelli, Antonio..
Clinical Genetics.  97 (2020)  4 - p. 672-674 , 2020
Link: https://doi.org/10.1111/..
 
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13

A novel patient with White–Sutton syndrome refines the muta..:

Pascolini, Giulia ; Agolini, Emanuele ; Fleischer, Nicole...
American Journal of Medical Genetics Part A.  182 (2020)  7 - p. 1791-1795 , 2020
Link: https://doi.org/10.1002/..
 
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14

Genotypic Categorization of Loeys-Dietz Syndrome Based on 2..:

Camerota, Letizia ; Ritelli, Marco ; Wischmeijer, Anita...
Genes.  10 (2019)  10 - p. 764 , 2019
Link: https://doi.org/10.3390/..
 
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15

The facial dysmorphology analysis technology in intellectua..:

Pascolini, Giulia ; Fleischer, Nicole ; Ferraris, Alessandro..
Journal of Human Genetics.  64 (2019)  8 - p. 721-728 , 2019
Link: https://doi.org/10.1038/..
 
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