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Telegrafi, Aida
105  results:
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1

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine.  25 (2023)  11 - p. 100938 , 2023
Link: https://doi.org/10.1016/..
 
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2

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100168 , 2023
Link: https://doi.org/10.1016/..
 
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3

Cation leak through the ATP1A3 pump causes spasticity and i..:

Calame, Daniel G ; Moreno Vadillo, Cristina ; Berger, Seth...
Brain.  , 2023
Link: https://doi.org/10.1093/..
 
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4

De novo truncatingNOVA2variants affect alternative splicing..:

Scala, Marcello ; Drouot, Nathalie ; MacLennan, Suzanna C....
Human Mutation.  43 (2022)  9 - p. 1299-1313 , 2022
Link: https://doi.org/10.1002/..
 
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5

Heterozygous pathogenic variants involvingCBFBcause a new s..:

Beyltjens, Tessi ; Boudin, Eveline ; Revencu, Nicole...
Journal of Medical Genetics.  60 (2022)  5 - p. 498-504 , 2022
Link: https://doi.org/10.1136/..
 
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6

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100102 , 2022
Link: https://doi.org/10.1016/..
 
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7

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A....
Movement Disorders.  37 (2022)  7 - p. 1547-1554 , 2022
Link: https://doi.org/10.1002/..
 
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8

Truncating variants in the SHANK1 gene are associated with ..:

May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya...
Genetics in Medicine.  23 (2021)  10 - p. 1912-1921 , 2021
Link: https://doi.org/10.1038/..
 
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9

Syndromic neurodevelopmental disorder associated with de no..:

Burns, William ; Bird, Lynne M. ; Heron, Delphine...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 2863-2872 , 2021
Link: https://doi.org/10.1002/..
 
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10

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

Mutations in FAM50A suggest that Armfield XLID syndrome is ..:

Lee, Yu-Ri ; Khan, Kamal ; Armfield-Uhas, Kim...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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12

Atypical phenotypes caused by the ATP1A3 variant p.P775L (1..:

Calame, Daniel ; Shinawi, Marwan ; Cohen, Julie...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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13

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, Eduardo ; Hervieu, Alexia ; Kaserer, Teresa...
The American Journal of Human Genetics.  104 (2019)  4 - p. 709-720 , 2019
Link: https://doi.org/10.1016/..
 
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14

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable..:

Fischer-Zirnsak, Björn ; Segebrecht, Lara ; Schubach, Max...
The American Journal of Human Genetics.  105 (2019)  3 - p. 631-639 , 2019
Link: https://doi.org/10.1016/..
 
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15

De novo variants in HK1 associated with neurodevelopmental ..:

Okur, Volkan ; Cho, Megan T. ; van Wijk, Richard...
European Journal of Human Genetics.  27 (2019)  7 - p. 1081-1089 , 2019
Link: https://doi.org/10.1038/..
 
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