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Martínez-Monseny, Antonio
62  Ergebnisse:
Personensuche X
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1

Clinical Genetics Assessment Triangle (CGAT): A simple tool..:

Ferri-Rufete, David ; López-González, Aitor ; Casas-Alba, Dídac...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104858 , 2023
Link: https://doi.org/10.1016/..
 
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Five new cases of syndromic intellectual disability due to ..:

Urreizti, Roser ; Lopez-Martin, Estrella ; Martinez-Monseny, Antonio...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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3

Pseudoachondroplasia: Descriptions of a de novo and familia..:

Casas-Alba, Dídac ; Fernández López, Anna ; Gean Molins, Esther..
Anales de Pediatría (English Edition).  89 (2018)  1 - p. 60-61 , 2018
Link: https://doi.org/10.1016/..
 
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4

Seudoacondroplasia: descripción de un caso de novo y otro f..:

Casas-Alba, Dídac ; Fernández López, Anna ; Gean Molins, Esther..
Anales de Pediatría.  89 (2018)  1 - p. 60-61 , 2018
Link: https://doi.org/10.1016/..
 
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5

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomann..:

Izquierdo-Serra, Mercè ; Martínez-Monseny, Antonio ; López, Laura...
International Journal of Molecular Sciences.  19 (2018)  2 - p. 619 , 2018
Link: https://doi.org/10.3390/..
 
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6

Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:

Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong...
Human Genetics.  143 (2024)  3 - p. 279-291 , 2024
Link: https://doi.org/10.1007/..
 
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Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100287 , 2024
Link: https://doi.org/10.1016/..
 
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8

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology.  155 (2024)  - p. 8-17 , 2024
Link: https://doi.org/10.1016/..
 
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9

Beyond the known phenotype of sotos syndrome: a 31-individu..:

Lourdes, Vega-Hanna ; Mario, Sanz-Cuesta ; Didac, Casas-Alba...
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

MECP2-Related Disorders in Males:

Pascual-Alonso, Ainhoa ; Martínez-Monseny, Antonio F. ; Xiol, Clara.
International Journal of Molecular Sciences.  22 (2021)  17 - p. 9610 , 2021
Link: https://doi.org/10.3390/..
 
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11

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Cli..:

Martínez-Monseny, Antonio F. ; Edo, Albert ; Casas-Alba, Dídac...
International Journal of Molecular Sciences.  22 (2021)  10 - p. 5180 , 2021
Link: https://doi.org/10.3390/..
 
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12

Targeting the Gut Microbiome in Prader-Willi Syndrome:

Ramon-Krauel, Marta ; Amat-Bou, Montse ; Serrano, Mercedes..
Journal of Clinical Medicine.  10 (2021)  22 - p. 5328 , 2021
Link: https://doi.org/10.3390/..
 
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13

GestaltMatcher Database - A global reference for facial phe..:

Hsieh, Tzung-Chien ; Lesmann, Hellen ; Hustinx, Alexander...
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eab.  , 2024
Link: https://pure.eur.nl/en/p..
 
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14

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich Vilanova, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
European Commission 305444.  , 2022
Link: https://ddd.uab.cat/reco..
 
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15

Pathogenic NR2F1 variants cause a developmental ocular phen..:

Jurkute, Neringa ; Bertacchi, Michele ; Arno, Gavin...
doi:10.17863/CAM.76370.  , 2021
Link: https://doi.org/10.17863..
 
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