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Mariani, Milena
161  results:
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1

SMC1A epilepsy syndrome: clinical data from a large interna..:

Gibellato, Elisabetta ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine.  12 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

Application of the Face2Gene tool in an Italian dysmorpholo..:

Carrer, Alessia ; Romaniello, Maria Giovanna ; Calderara, Maria Letizia...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

Patients with DeSanto–Shinawi syndrome: Further extension o..:

Pasquali, Daniela ; Torella, Annalaura ; Grandone, Anna...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 823-830 , 2022
Link: https://doi.org/10.1002/..
 
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5

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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6

Cantù syndrome: Report of a patient with a novel variant in..:

Apuril Velgara, Erika Solansh ; Mariani, Milena ; Torella, Annalaura...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1661-1666 , 2022
Link: https://doi.org/10.1002/..
 
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7

A missense mutation in DDRGK1 gene associated to Shohat‐typ..:

Franceschi, Roberto ; Iascone, Maria ; Maitz, Silvia...
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2434-2437 , 2022
Link: https://doi.org/10.1002/..
 
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8

Clinical relevance of postzygotic mosaicism in Cornelia de ..:

Latorre-Pellicer, Ana ; Gil-Salvador, Marta ; Parenti, Ilaria...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) a..:

Tannorella, Pierpaola ; Minervino, Daniele ; Guzzetti, Sara...
Genes.  12 (2021)  4 - p. 588 , 2021
Link: https://doi.org/10.3390/..
 
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10

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype ..:

Ajmone, Paola Francesca ; Allegri, Beatrice ; Cereda, Anna...
Journal of Autism and Developmental Disorders.  52 (2021)  11 - p. 4763-4773 , 2021
Link: https://doi.org/10.1007/..
 
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11

Burden of care in families of patients with rare genetic di..:

Moretti, Alex ; Cianci, Paola ; De Paoli, Anita...
European Journal of Medical Genetics.  64 (2021)  7 - p. 104230 , 2021
Link: https://doi.org/10.1016/..
 
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12

ANKRD11 variants: KBG syndrome and beyond:

Parenti, Ilaria ; Mallozzi, Mark B. ; Hüning, Irina...
Clinical Genetics.  100 (2021)  2 - p. 187-200 , 2021
Link: https://doi.org/10.1111/..
 
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13

Lithium as a possible therapeutic strategy for Cornelia de ..:

Grazioli, Paolo ; Parodi, Chiara ; Mariani, Milena...
Cell Death Discovery.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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14

Cornelia de Lange Syndrome: From a Disease to a Broader Spe..:

Selicorni, Angelo ; Mariani, Milena ; Lettieri, Antonella.
Genes.  12 (2021)  7 - p. 1075 , 2021
Link: https://doi.org/10.3390/..
 
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15

Complex nutritional deficiencies in a large cohort of Itali..:

Parma, Barbara ; Cianci, Paola ; Decimi, Valentina...
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2094-2101 , 2020
Link: https://doi.org/10.1002/..
 
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