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Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15676, doi. 10.3390/ijms242115676
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- Article
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1838, doi. 10.3390/genes14101838
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- Article
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.
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- Genes, 2023, v. 14, n. 10, p. 1878, doi. 10.3390/genes14101878
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- Article
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11429, doi. 10.3390/ijms241411429
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- Article
Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.
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- Genes, 2022, v. 13, n. 3, p. 394, doi. 10.3390/genes13030394
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- Article
Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan.
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- Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1987, doi. 10.1093/ckj/sfab082
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- Article
Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1990, doi. 10.1093/ckj/sfab083
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- Article
Multimedia: recurso didáctico para educación especial.
- Published in:
- Encuentros, 2021, v. 19, n. 1, p. 171, doi. 10.15665/encuen.v19i01.2274
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- Article
Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1321
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- Article
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.568
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- Article
Fractales entre "La nuit étoilée", "#8" y una rosa eglanteria: una visión desde la transdisciplinariedad.
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- Razón y Palabra, 2018, v. 22, n. 2, p. 479
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- Article
Benito Juárez y Porfirio Díaz: su imagen política proyectada por la historiografía.
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- Razón y Palabra, 2017, v. 21, n. 4, p. 363
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- Article
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
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- Article
INTEGRACIÓN DE GAMIFICACIÓN Y APRENDIZAJE ACTIVO EN EL AULA.
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- Ra Ximhai, 2016, v. 12, n. 6, p. 315, doi. 10.35197/rx.12.01.e3.2016.21.sz
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- Article
ANÁLISIS CUALITATIVO DE EXPERIENCIAS Y EMOCIONES DE LOS ALUMNOS EN EL AULA.
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- Ra Ximhai, 2016, v. 12, n. 6, p. 347, doi. 10.35197/rx.12.01.e3.2016.23.sz
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- Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
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- Article
EMOCIONES: FACTOR DE CAMBIO EN EL APRENDIZAJE.
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- Ra Ximhai, 2015, p. 189, doi. 10.35197/rx.11.01.e2.2015.13.sz
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- Article
A New Overgrowth Syndrome is due to Mutations in RNF125.
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- Human Mutation, 2014, v. 35, n. 12, p. 1436, doi. 10.1002/humu.22689
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- Article