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López‐González, Vanesa
88  results:
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1

Heterozygous pathogenic variants inGLI1are a common finding..:

Palencia‐Campos, Adrián ; Martínez‐Fernández, María‐Luisa ; Altunoglu, Umut...
Human Mutation.  41 (2019)  1 - p. 265-276 , 2019
Link: https://doi.org/10.1002/..
 
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2

Identification of the fourth duplication of upstream IHH re..:

Barroso, Eva ; Berges‐Soria, Julia ; Benito‐Sanz, Sara...
American Journal of Medical Genetics Part A.  167 (2015)  4 - p. 902-906 , 2015
Link: https://doi.org/10.1002/..
 
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3

Clinical comparison of 10q26 overlapping deletions: Delinea..:

Vera‐Carbonell, Ascensión ; López‐González, Vanesa ; Bafalliu, Juan Antonio...
American Journal of Medical Genetics Part A.  167 (2015)  4 - p. 786-790 , 2015
Link: https://doi.org/10.1002/..
 
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4

Two novel POC1A mutations in the primordial dwarfism, SOFT ..:

Barraza‐García, Jimena ; Iván Rivera‐Pedroza, Carlos ; Salamanca, Luis...
American Journal of Medical Genetics Part A.  170 (2015)  1 - p. 210-216 , 2015
Link: https://doi.org/10.1002/..
 
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5

Two mutations in IFITM5 causing distinct forms of osteogene..:

Guillén‐Navarro, Encarna ; Ballesta‐Martínez, María Juliana ; Valencia, María...
American Journal of Medical Genetics Part A.  164 (2014)  5 - p. 1136-1142 , 2014
Link: https://doi.org/10.1002/..
 
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6

Pre‐ and postnatal findings in a patient with a novel rec(8..:

Vera‐Carbonell, Ascensión ; López‐González, Vanesa ; Bafalliu, Juan Antonio...
American Journal of Medical Genetics Part A.  161 (2013)  9 - p. 2369-2375 , 2013
Link: https://doi.org/10.1002/..
 
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7

Autosomal dominant oculoauriculovertebral spectrum and 14q2..:

Ballesta‐Martínez, Maria Juliana ; López‐González, Vanesa ; Dulcet, Lluis Armengol...
American Journal of Medical Genetics Part A.  161 (2013)  8 - p. 2030-2035 , 2013
Link: https://doi.org/10.1002/..
 
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8

Validation of clinical exome sequencing in the diagnostic p..:

Ballesta-Martínez, María Juliana ; Pérez-Fernández, Virginia ; López-González, Vanesa...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics.  143 (2023)  1 - p. 71-84 , 2023
Link: https://doi.org/10.1007/..
 
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11

Extremely variable expressivity in Smith-Lemli-Opitz syndro..:

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría (English Edition).  96 (2022)  3 - p. 253-255 , 2022
Link: https://doi.org/10.1016/..
 
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12

Expresividad extremadamente variable en el síndrome de Smit..:

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría.  96 (2022)  3 - p. 253-255 , 2022
Link: https://doi.org/10.1016/..
 
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13

Riesgo de malformaciones mayores y menores en niños concebi..:

Sánchez Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría.  95 (2021)  6 - p. 448-458 , 2021
Link: https://doi.org/10.1016/..
 
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14

Health impact of acute intermittent porphyria in latent and..:

Buendía-Martínez, Juan ; Barreda-Sánchez, María ; Rodríguez-Peña, Lidya...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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15

Risk of mayor and minor birth defects in children conceived..:

Sánchez Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría (English Edition).  95 (2021)  6 - p. 448-458 , 2021
Link: https://doi.org/10.1016/..
 
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