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Calì, Elisa
119  results:
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1

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics.  111 (2024)  1 - p. 200-210 , 2024
Link: https://doi.org/10.1016/..
 
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2

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Doma..:

Scorrano, Giovanna ; D'Onofrio, Gianluca ; Accogli, Andrea...
Pediatric Neurology.  149 (2023)  - p. 84-92 , 2023
Link: https://doi.org/10.1016/..
 
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3

P135: Recurrent variants in subunits of the human mediator ..:

Cali, Elisa
Genetics in Medicine Open.  1 (2023)  1 - p. 100164 , 2023
Link: https://doi.org/10.1016/..
 
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4

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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5

P134: Biallelic pathogenic variants in ITFG2 are associated..:

Cali, Elisa
Genetics in Medicine Open.  1 (2023)  1 - p. 100163 , 2023
Link: https://doi.org/10.1016/..
 
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6

P133: A homozygous recurrent in-frame deletion in MED22 cau..:

Cali, Elisa
Genetics in Medicine Open.  1 (2023)  1 - p. 100162 , 2023
Link: https://doi.org/10.1016/..
 
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7

The Cardiofaciocutaneous Syndrome: From Genetics to Prognos..:

Scorrano, Giovanna ; David, Emanuele ; Calì, Elisa...
Genes.  14 (2023)  12 - p. 2111 , 2023
Link: https://doi.org/10.3390/..
 
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8

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine.  25 (2023)  10 - p. 100961 , 2023
Link: https://doi.org/10.1016/..
 
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9

Leukoencephalopathy caused by a 17p13.3 microdeletion:

Wade, Charles ; Williams, Thomas ; Labrum, Robyn...
Journal of Neurology, Neurosurgery & Psychiatry.  95 (2023)  3 - p. 290-292 , 2023
Link: https://doi.org/10.1136/..
 
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10

White matter abnormalities in 15 subjects with SPG76:

Alkhalifa, Abdulrahman ; Chen, Shihan ; Hasiloglu, Zehra Isik...
Journal of Neurology.  270 (2023)  12 - p. 5784-5792 , 2023
Link: https://doi.org/10.1007/..
 
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11

Expanding the phenotypic spectrum of CLCN2-related leucoenc..:

Nóbrega, Paulo R ; R. B. de Paiva, Anderson ; Souza, Katiane S...
Brain Communications.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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12

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain.  146 (2023)  12 - p. 5031-5043 , 2023
Link: https://doi.org/10.1093/..
 
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13

Genetic Investigation of Consanguineous Pakistani Families ..:

Saadi, Saadia Maryam ; Cali, Elisa ; Khalid, Lubaba Bintee...
Genes.  14 (2023)  7 - p. 1404 , 2023
Link: https://doi.org/10.3390/..
 
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14

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine.  25 (2023)  1 - p. 76-89 , 2023
Link: https://doi.org/10.1016/..
 
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15

ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrom..:

Amore, Greta ; Calì, Elisa ; Spanò, Maria...
Brain and Development.  45 (2023)  10 - p. 588-596 , 2023
Link: https://doi.org/10.1016/..
 
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