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Paisàn, Luis
38  results:
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1

Epidemiological and clinical analysis of a consecutive seri..:

Martínez-Frías, María Luisa ; Bermejo, Eva ; Mendioroz, Jacobo...
Journal of Pediatric Surgery.  44 (2009)  4 - p. 811-820 , 2009
Link: https://doi.org/10.1016/..
 
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2

A neonatal form of Steinert's myotonic dystrophy in twins a..:

García de Andoin, Nagore ; Echeverría, Juncal ; Cobo, Ana M....
Fertility and Sterility.  84 (2005)  3 - p. 756.e5-756.e8 , 2005
Link: https://doi.org/10.1016/..
 
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3

Pure partial trisomy 7q: Two new patients and review:

Rodríguez, Laura ; López, Fermina ; Paisán, Luis...
American Journal of Medical Genetics.  113 (2002)  2 - p. 218-224 , 2002
Link: https://doi.org/10.1002/..
 
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4

Primary midline developmental field. II. Clinical/epidemiol..:

Martínez‐Frías, María‐Luisa ; Urioste, Miguel ; Bermejo, Eva...
American Journal of Medical Genetics.  56 (1995)  4 - p. 382-388 , 1995
Link: https://doi.org/10.1002/..
 
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5

Severe spondylocostal dysostosis associated with other cong..:

Martínez‐Frías, María‐Luisa ; Bermejo, Eva ; Paisàn, Luis...
American Journal of Medical Genetics.  51 (1994)  3 - p. 203-212 , 1994
Link: https://doi.org/10.1002/..
 
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6

DK-phocomelia syndrome in a child with a long follow-up:

Urioste, Miguel ; Paisán, Luis ; Martínez-Frías, María Luisa
American Journal of Medical Genetics.  52 (1994)  3 - p. 269-271 , 1994
Link: https://doi.org/10.1002/..
 
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7

Tracheoesophageal fistula, gastrointestinal abnormalities, ..:

Martínez‐Frías, María‐Luisa ; Frías, Jaime L. ; Galán, Enrique...
American Journal of Medical Genetics.  44 (1992)  3 - p. 352-355 , 1992
Link: https://doi.org/10.1002/..
 
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8

Cerebral abnormalities in congenital myotonic dystrophy:

Garcia-Alix, Alfredo ; Cabañas, Fernando ; Morales, Carmen...
Pediatric Neurology.  7 (1991)  1 - p. 28-32 , 1991
Link: https://doi.org/10.1016/..
 
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9

Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:

Beijer, Danique ; Fogel, Brent L. ; Beltran, Sergi...
The Cerebellum.  23 (2023)  2 - p. 391-400 , 2023
Link: https://doi.org/10.1007/..
 
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10

Phenotypic and genotypic characterization of families with ..:

Darvish, Hossein ; Azcona, Luis J. ; Tafakhori, Abbas...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

Genetic screening in two Iranian families with early-onset ..:

Wang, Jen-Chyong ; Alinaghi, Somayeh ; Tafakhori, Abbas...
Neurobiology of Aging.  62 (2018)  - p. 244.e15-244.e17 , 2018
Link: https://doi.org/10.1016/..
 
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12

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell D..:

Sánchez, Elena ; Azcona, Luis J. ; Paisán-Ruiz, Coro
Molecular Neurobiology.  55 (2018)  8 - p. 6734-6754 , 2018
Link: https://doi.org/10.1007/..
 
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13

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic ..:

Vilas, Dolores ; Fernández-Santiago, Rubén ; Sanchez, Elena...
Journal of Parkinson's Disease.  7 (2017)  3 - p. 459-463 , 2017
Link: https://doi.org/10.3233/..
 
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14

Whole genome sequencing identifies a novel homozygous exon ..:

Darvish, Hossein ; Azcona, Luis J. ; Tafakhori, Abbas...
npj Genomic Medicine.  2 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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15

PTRHD1(C2orf79) mutations lead to autosomal-recessive intel..:

Khodadadi, Hamidreza ; Azcona, Luis J. ; Aghamollaii, Vajiheh...
Movement Disorders.  32 (2016)  2 - p. 287-291 , 2016
Link: https://doi.org/10.1002/..
 
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