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Alagia, Marianna
26  results:
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1

Metabolic stroke-like events in a girl with pyruvate dehydr..:

Fecarotta, Simona ; D'Amico, Alessandra ; Di Gennaro, Simona...
Neurological Sciences.  45 (2024)  6 - p. 2913-2914 , 2024
Link: https://doi.org/10.1007/..
 
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2

A Novel Splicing SCN2A Mutation in an Adolescent With Low-F..:

Alagia, Marianna ; Fecarotta, Simona ; Romano, Alfonso...
Pediatric Neurology.  138 (2023)  - p. 58-61 , 2023
Link: https://doi.org/10.1016/..
 
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3

Contribution of Genetic Test to Early Diagnosis of Methylen..:

Barretta, Ferdinando ; Uomo, Fabiana ; Fecarotta, Simona...
Genes.  14 (2023)  5 - p. 980 , 2023
Link: https://doi.org/10.3390/..
 
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4

Expansion of the phenotype of lateral meningocele syndrome:

Cappuccio, Gerarda ; Apuzzo, Diletta ; Alagia, Marianna...
American Journal of Medical Genetics Part A.  182 (2020)  5 - p. 1259-1262 , 2020
Link: https://doi.org/10.1002/..
 
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5

Two cases of 16q12.1q21 deletions and refinement of the cri..:

Apuzzo, Diletta ; Cappuccio, Gerarda ; Vaisanen, Taneli...
European Journal of Medical Genetics.  63 (2020)  6 - p. 103878 , 2020
Link: https://doi.org/10.1016/..
 
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6

Cavitating and tigroid‐like leukoencephalopathy in a case o..:

Alagia, Marianna ; Cappuccio, Gerarda ; Torella, Annalaura...
JIMD Reports.  52 (2020)  1 - p. 11-16 , 2020
Link: https://doi.org/10.1002/..
 
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7

A systematic cross-sectional survey of multiple sulfatase d..:

Cappuccio, Gerarda ; Alagia, Marianna ; Brunetti-Pierri, Nicola
Molecular Genetics and Metabolism.  130 (2020)  4 - p. 283-288 , 2020
Link: https://doi.org/10.1016/..
 
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8

Dual diagnosis in a child with familial SCN8A-related encep..:

Alagia, Marianna ; Bernardo, Pia ; Genesio, Rita...
Neurological Sciences.  42 (2020)  5 - p. 2115-2117 , 2020
Link: https://doi.org/10.1007/..
 
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9

Corrigendum to "A systematic cross-sectional survey of mult..:

Cappuccio, Gerarda ; Alagia, Marianna ; Brunetti-Pierri, Nicola
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 284 , 2020
Link: https://doi.org/10.1016/..
 
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10

Microdeletion of pseudogene chr14.232.a affects LRFN5 expre..:

Cappuccio, Gerarda ; Attanasio, Sergio ; Alagia, Marianna...
European Journal of Human Genetics.  27 (2019)  9 - p. 1475-1480 , 2019
Link: https://doi.org/10.1038/..
 
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11

Pain and sleep disturbances in Rett syndrome and other neur..:

Cappuccio, Gerarda ; Bernardo, Pia ; Raiano, Enza...
Acta Paediatrica.  108 (2018)  1 - p. 171-172 , 2018
Link: https://doi.org/10.1111/..
 
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12

Gait disturbance and lower limb pain in a patient with PIK3..:

Cappuccio, Gerarda ; Alagia, Marianna ; D'Anna, Mariangela...
European Journal of Medical Genetics.  60 (2017)  12 - p. 655-657 , 2017
Link: https://doi.org/10.1016/..
 
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13

An extremely severe phenotype attributed to WDR81 nonsense ..:

Cappuccio, Gerarda ; Pinelli, Michele ; Torella, Annalaura...
Annals of Neurology.  82 (2017)  4 - p. 650-651 , 2017
Link: https://doi.org/10.1002/..
 
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14

A child with Myhre syndrome presenting with corectopia and ..:

Alagia, Marianna ; Cappuccio, Gerarda ; Pinelli, Michele...
American Journal of Medical Genetics Part A.  176 (2017)  2 - p. 426-430 , 2017
Link: https://doi.org/10.1002/..
 
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15

Expanding the phenotype of DST‐related disorder: A case rep..:

Cappuccio, Gerarda ; Pinelli, Michele ; Torella, Annalaura...
American Journal of Medical Genetics Part A.  173 (2017)  10 - p. 2743-2746 , 2017
Link: https://doi.org/10.1002/..
 
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