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Severi, Giulia
154  results:
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1

Phenotypic Description of A Patient with ODLURO Syndrome an..:

Benvenuto, Mario ; Cesarini, Sofia ; Severi, Giulia...
Genes.  15 (2024)  4 - p. 430 , 2024
Link: https://doi.org/10.3390/..
 
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2

Monoallelic and biallelic mutations in RELN underlie a grad..:

Di Donato, Nataliya ; Guerrini, Renzo ; Billington Jr, Charles J...
Brain.  145 (2022)  9 - p. 3274-3287 , 2022
Link: https://doi.org/10.1093/..
 
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3

Deletion of 4q13.2q21.1 chromosome and autism spectrum diso..:

Posar, Annio ; Visconti, Paola ; Magini, Pamela...
Journal of Pediatric Neurosciences.  17 (2022)  2 - p. 131-134 , 2022
Link: https://doi.org/10.4103/..
 
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4

New clinical features in an adult patient with Skraban‐Dear..:

Innella, Giovanni ; Scarano, Emanuela ; Palumbo, Pietro..
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 306-309 , 2022
Link: https://doi.org/10.1002/..
 
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5

HDAC9structural variants disruptingTWIST1transcriptional re..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
Genome Research.  32 (2022)  7 - p. 1242-1253 , 2022
Link: https://doi.org/10.1101/..
 
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6

There Is More Than Meets the Eye: Identification of Dual Mo..:

Morgan, Anna ; Faletra, Flavio ; Severi, Giulia...
Biomedicines.  10 (2021)  1 - p. 12 , 2021
Link: https://doi.org/10.3390/..
 
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7

Autozygosity-driven genetic diagnosis in consanguineous fam..:

Palombo, Flavia ; Graziano, Claudio ; Al Wardy, Nadia...
Human Genetics.  139 (2020)  11 - p. 1429-1441 , 2020
Link: https://doi.org/10.1007/..
 
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8

A New Homozygous CACNB2 Mutation has Functional Relevance a..:

Graziano, Claudio ; Despang, Patrick ; Palombo, Flavia...
Journal of Autism and Developmental Disorders.  51 (2020)  1 - p. 377-381 , 2020
Link: https://doi.org/10.1007/..
 
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9

Epilepsy with eyelid myoclonias and Sotos syndrome features..:

Mastrangelo, Vincenzo ; Minardi, Raffaella ; Baroni, Maria Chiara...
Seizure.  83 (2020)  - p. 169-171 , 2020
Link: https://doi.org/10.1016/..
 
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10

Whole‐exome sequencing in adult patients with developmental..:

Minardi, Raffaella ; Licchetta, Laura ; Baroni, Maria Chiara...
Clinical Genetics.  98 (2020)  5 - p. 477-485 , 2020
Link: https://doi.org/10.1111/..
 
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11

New patients with Temple syndrome caused by 14q32 deletion:..:

Severi, Giulia ; Bernardini, Laura ; Briuglia, Silvana...
American Journal of Medical Genetics Part A.  170 (2015)  1 - p. 162-169 , 2015
Link: https://doi.org/10.1002/..
 
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12

The sword of Damocles: Beginnings of an ethnography of the ..:

Colavolpe Severi, Giulia
Ateliers d'anthropologie.  , 2019
Link: https://doi.org/10.4000/..
 
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13

HDAC9 structural variants disrupting TWIST1 transcriptional..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9341515/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

HDAC9 structural variants disrupting TWIST1 transcriptional..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
info:eu-repo/semantics/altIdentifier/pmid/35710300.  , 2022
Link: https://hdl.handle.net/1..
 
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15

There Is More Than Meets the Eye: Identification of Dual Mo..:

Morgan, Anna ; Faletra, Flavio ; Severi, Giulia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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