FGF23-Related Hypophosphataemic Bone Disease.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Works by González‐Meneses, Antonio
Results: 17
1
2
Genetic Diagnosis of Rare Diseases: Past and Present.
- Published in:
- 2020
- By:
- Publication type:
- journal article
3
Identification of copy‐number variants in patients with overgrowth disorders.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
- By:
- Publication type:
- Article
4
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 761, doi. 10.1111/cge.13936
- By:
- Publication type:
- Article
5
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 467, doi. 10.1111/cge.13689
- By:
- Publication type:
- Article
6
Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 148, n. 2/3, p. 156, doi. 10.1159/000445859
- By:
- Publication type:
- Article
7
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
- Published in:
- European Child & Adolescent Psychiatry, 2024, v. 33, n. 11, p. 3829, doi. 10.1007/s00787-024-02413-x
- By:
- Publication type:
- Article
8
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1268, doi. 10.1002/ajmg.a.37559
- By:
- Publication type:
- Article
9
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 7, p. 1646, doi. 10.1002/jbmr.2203
- By:
- Publication type:
- Article
10
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 137, doi. 10.1186/1471-2350-11-137
- By:
- Publication type:
- Article
11
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64626-9
- By:
- Publication type:
- Article
12
Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086286
- By:
- Publication type:
- Article
13
Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054043
- By:
- Publication type:
- Article
14
Spanish consensus on managing pregnancy in women with Gaucher disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03684-6
- By:
- Publication type:
- Article
15
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
16
Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
17
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
- Published in:
- 2021
- By:
- Publication type:
- journal article