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Martinez‐Mir, Amalia
32  results:
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1

Lack of replication of previous autism spectrum disorder GW..:

Torrico, Bàrbara ; Chiocchetti, Andreas G. ; Bacchelli, Elena...
Autism Research.  10 (2016)  2 - p. 202-211 , 2016
Link: https://doi.org/10.1002/..
 
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2

Dominant‐negative mutation p.Arg324Thr in KCNA1 impairs Kv1..:

Tristán‐Clavijo, Enriqueta ; Scholl, Francisco G. ; Macaya, Alfons...
Movement Disorders.  31 (2016)  11 - p. 1743-1748 , 2016
Link: https://doi.org/10.1002/..
 
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3

Atrichia with Papular Lesions Resulting from Novel Compound..:

Michailidis, Eleni ; Theos, Amy ; Zlotogorski, Abraham..
Pediatric Dermatology.  24 (2007)  5 - p. , 2007
Link: https://doi.org/10.1111/..
 
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4

A nonsense mutation in the desmoglein 1 gene underlies stri..:

Kljuic, Ana ; Gilead, Leon ; Martinez‐Mir, Amalia...
Experimental Dermatology.  12 (2003)  4 - p. 523-527 , 2003
Link: https://doi.org/10.1034/..
 
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5

De novo mutations in monilethrix:

Horev, Liran ; Djabali, Karima ; Green, Jack...
Experimental Dermatology.  12 (2003)  6 - p. 882-885 , 2003
Link: https://doi.org/10.1111/..
 
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6

Exploring genetic testing requests, genetic alterations and..:

Garrido-Torres, Nathalia ; Marqués Rodríguez, Renata ; Alemany-Navarro, María...
European Child & Adolescent Psychiatry.  , 2024
Link: https://doi.org/10.1007/..
 
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7

A Neuroligin-1 mutation associated with Alzheimer's disease..:

Arias-Aragón, Francisco ; Tristán-Clavijo, Enriqueta ; Martínez-Gallego, Irene...
iScience.  26 (2023)  6 - p. 106868 , 2023
Link: https://doi.org/10.1016/..
 
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8

Selective expression of the neurexin substrate for presenil..:

Sánchez-Hidalgo, Ana C. ; Arias-Aragón, Francisco ; Romero-Barragán, M. Teresa...
Experimental Neurology.  347 (2022)  - p. 113896 , 2022
Link: https://doi.org/10.1016/..
 
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9

Proteolytic Processing of Neurexins by Presenilins Sustains..:

Servián-Morilla, Emilia ; Robles-Lanuza, Estefanía ; Sánchez-Hidalgo, Ana C....
The Journal of Neuroscience.  38 (2017)  4 - p. 901-917 , 2017
Link: https://doi.org/10.1523/..
 
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10

Analysis of CCM1 expression uncovers novel minor-form exons..:

Mondejar, Rufino ; Delgado, Mercedes ; Solano, Francisca...
Genes & Genomics.  38 (2016)  9 - p. 879-889 , 2016
Link: https://doi.org/10.1007/..
 
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11

A truncating mutation in Alzheimer's disease inactivates ne..:

Tristán-Clavijo, Enriqueta ; Camacho-Garcia, Rafael J. ; Robles-Lanuza, Estefanía...
Neurobiology of Aging.  36 (2015)  12 - p. 3171-3175 , 2015
Link: https://doi.org/10.1016/..
 
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12

Genetic study of NRXN1β variants in Spanish patients with s..:

Abasolo, Nerea ; Roig, Bàrbara ; Martorell, Lourdes...
Schizophrenia Research.  159 (2014)  2-3 - p. 554-555 , 2014
Link: https://doi.org/10.1016/..
 
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13

Clinical and Molecular Study of the Extracellular Matrix Pr..:

Mondejar, Rufino ; Garcia-Moreno, Jose Manuel ; Rubio, Rocio...
Journal of Clinical Neurology.  10 (2014)  1 - p. 64 , 2014
Link: https://doi.org/10.3988/..
 
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14

Mutation Prevalence of Cerebral Cavernous Malformation Gene..:

Mondéjar, Rufino ; Solano, Francisca ; Rubio, Rocío...
PLoS ONE.  9 (2014)  1 - p. e86286 , 2014
Link: https://doi.org/10.1371/..
 
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15

Mutations affecting synaptic levels of neurexin-1β in autis..:

Camacho-Garcia, Rafael J. ; Planelles, Mª. Inmaculada ; Margalef, Mar...
Neurobiology of Disease.  47 (2012)  1 - p. 135-143 , 2012
Link: https://doi.org/10.1016/..
 
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