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Domínguez-Carral, Jana
38  results:
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1

Diverse faces of GNAO1: mild forms in epilepsy and autism:

Ludlam, William Grant ; Soliani, Luca ; Domínguez-Carral, Jana...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Expanding the phenotypic spectrum ofTRAPPC11-related muscul..:

Justel, Maria ; Jou, Cristina ; Sariego-Jamardo, Andrea...
Journal of Medical Genetics.  60 (2023)  10 - p. 965-973 , 2023
Link: https://doi.org/10.1136/..
 
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3

New genes involved in Angelman syndrome-like: Expanding the..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafré, Ariadna...
PLOS ONE.  16 (2021)  10 - p. e0258766 , 2021
Link: https://doi.org/10.1371/..
 
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4

Molecular characterization of congenital myasthenic syndrom..:

Natera-de Benito, Daniel ; Topf, Ana ; Dominguez-Carral, Jana...
European Journal of Paediatric Neurology.  21 (2017)  - p. e222 , 2017
Link: https://doi.org/10.1016/..
 
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5

Dyskinetic crisis in GNAO1-related disorders: clinical pers..:

Domínguez Carral, Jana ; Reinhard, Carola ; Ebrahimi-Fakhari, Darius...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

Expanding the phenotypic spectrum of TRAPPC11-related muscu..:

Justel, Maria ; Jou, Cristina ; Sariego-Jamardo, Andrea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579479/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

New genes involved in Angelman syndrome-like: Expanding the..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafre, Ariadna...
PLoS ONE;16(10).  , 2021
Link: https://hdl.handle.net/1..
 
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8

New genes involved in Angelman syndrome-like : Expanding th..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramírez Mallafré, Ariadna...
Instituto de Salud Carlos III PI16/01411.  , 2021
Link: https://ddd.uab.cat/reco..
 
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9

Retrospective natural history of thymidine kinase 2 deficie..:

Garone, Caterina ; Taylor, Robert W ; Nascimento, Andrés...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073909/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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10

Retrospective natural history of thymidine kinase 2 deficie..:

Garone, Caterina ; Taylor, Robert W ; Nascimento, Andres...
10.1136/jmedgenet-2017-105012.  , 2018
Link: http://hdl.handle.net/10..
 
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11

Retrospective natural history of thymidine kinase 2 deficie..:

Garone, Caterina ; Taylor, Robert W ; Nascimento, Andrés...
https://www.repository.cam.ac.uk/handle/1810/291828.  , 2018
Link: https://www.repository.c..
 
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12

Retrospective natural history of thymidine kinase 2 deficie..:

Garone, Caterina ; Taylor, Robert W ; Nascimento, Andrés...
http://hdl.handle.net/10668/12291.  , 2018
Link: http://hdl.handle.net/10..
 
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13

New genes involved in Angelman syndrome-like: Expanding the..:

Cinthia Aguilera ; Elisabeth Gabau ; Ariadna Ramirez-Mallafré...
https://doi.org/10.1371/journal.pone.0258766.  , 2021
Link: https://doi.org/10.1371/..
 
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14

New genes involved in Angelman syndrome-like: Expanding the..:

Cinthia Aguilera ; Elisabeth Gabau ; Ariadna Ramirez-Mallafré...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519432/?tool=EBI.  , 2021
Link: https://doaj.org/article..
 
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15

Characteristics of AS-like patients at clinical re-evaluati..:

Cinthia Aguilera (10875480) ; Elisabeth Gabau (3185658) ; Ariadna Ramirez-Mallafré (11570726)...
https://figshare.com/articles/dataset/Characteristics_of_AS-like_patients_at_clinical_re-evaluation_/16820399.  , 2021
Link: https://doi.org/10.1371/..
 
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