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Spano, Alice
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1

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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3

BRAT1 Mutation Retrospective Diagnosis: A Case Report:

Vercellino, Fabiana ; Valerio, Massimo ; Dusio, Maria Pia..
Cureus.  , 2023
Link: https://doi.org/10.7759/..
 
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4

A case of early-onset Parkinson's disease in a patient with..:

Magistrelli, Luca ; Contaldi, Elena ; Caushi, Fjorilda...
Neurological Sciences.  44 (2023)  12 - p. 4537-4539 , 2023
Link: https://doi.org/10.1007/..
 
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5

Epilepsy in KAT6A syndrome: Description of two individuals ..:

Troisi, Serena ; Maitz, Silvia ; Severino, Mariasavina...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104380 , 2022
Link: https://doi.org/10.1016/..
 
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6

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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The Usefulness of a Targeted Next Generation Sequencing Gen..:

Mellone, Simona ; Puricelli, Chiara ; Vurchio, Denise...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

SETD5 Gene Haploinsufficiency in Three Patients With Suspec..:

Crippa, Milena ; Bestetti, Ilaria ; Maitz, Silvia...
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

The Potential Synergic Effect of a Complex Pattern of Multi..:

Cattoni, Alessandro ; Spano, Alice ; Tulone, Anna...
Frontiers in Endocrinology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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10

Children and Adults Affected by Cri Du Chat Syndrome: Care'..:

Liverani, Maria Elena ; Spano, Alice ; Danesino, Cesare...
Pediatric Reports.  11 (2019)  1 - p. 7839 , 2019
Link: https://doi.org/10.4081/..
 
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11

Clinical pitfalls in the diagnosis of segmental overgrowth ..:

Maguolo, Alice ; Antoniazzi, Franco ; Spano, Alice...
Italian Journal of Pediatrics.  44 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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12

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

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180463/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

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

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
Bestetti , I , Crippa , M , Sironi , A , Tumiatti , F , Masciadri , M , Smeland , M F , Naik , S , Murch , O , Bonati , M T , Spano , A , Cattaneo , E , Mariani , M , Gotta , F , Crosti , F , Cavalli , P , Pantaleoni , C , Natacci , F , Bedeschi , M F , Milani , D , Maitz , S , Selicorni , A , Spaccini , L , Peron , A , Russo , S , Larizza , L , Low , K & Finelli , P 2022 , ' Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome ' , International Journal of Molecular Sciences , vol. 23 , no. 11 , 5912 . https://doi.org/10.3390/ijms23115912.  , 2022
Link: https://hdl.handle.net/1..
 
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14

The Usefulness of a Targeted Next Generation Sequencing Gen..:

Mellone, Simona ; Puricelli, Chiara ; Vurchio, Denise...
info:eu-repo/semantics/altIdentifier/pmid/36035117.  , 2022
Link: http://hdl.handle.net/11..
 
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15

The Usefulness of a Targeted Next Generation Sequencing Gen..:

Mellone, Simona ; Puricelli, Chiara ; Vurchio, Denise...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403311/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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