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A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
- Published in:
- Global & Regional Health Technology Assessment, 2022, v. 9, n. 1, p. 14, doi. 10.33393/grhta.2022.2333
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- Article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170
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- Article
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-92
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- Article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
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- 2013
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- Publication type:
- journal article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
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- 2013
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- Publication type:
- journal article
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.
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- 2013
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- journal article
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
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- 2011
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- Publication type:
- journal article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8289, doi. 10.3390/ijms23158289
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- Article
Positional skull deformities in children: skull deformation without synostosis.
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- Child's Nervous System, 2006, v. 22, n. 4, p. 368, doi. 10.1007/s00381-005-1233-2
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- Article
Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
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- Article
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 902, doi. 10.1002/ajmg.a.36811
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- Article
Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 786, doi. 10.1002/ajmg.a.36949
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- Article
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409
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- Publication type:
- Article
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2369, doi. 10.1002/ajmg.a.36103
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- Article
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2030, doi. 10.1002/ajmg.a.36007
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- Publication type:
- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
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- Article
Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis.
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- Child's Nervous System, 2011, v. 27, n. 12, p. 2035, doi. 10.1007/s00381-011-1606-7
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- Publication type:
- Article
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
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- Child's Nervous System, 2010, v. 26, n. 1, p. 13, doi. 10.1007/s00381-009-0972-x
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- Publication type:
- Article
The importance of the number of antihypertensives in the progression of autosomal dominant polycystic kidney disease.
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- Nefrologia, 2021, v. 41, n. 3, p. 362, doi. 10.1016/j.nefro.2020.06.003
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- Article
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
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- 2019
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- Publication type:
- journal article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
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- Publication type:
- Article
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
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- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5003, doi. 10.3390/jcm12155003
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- Article
Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study.
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- Andrology, 2023, v. 11, n. 1, p. 24, doi. 10.1111/andr.13339
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- Publication type:
- Article
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
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- Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807
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- Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205
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- Article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
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- Article
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02809-z
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- Publication type:
- Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
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- Article
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
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- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0229025
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- Article
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
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- Article
Optimising care and follow-up of adults with achondroplasia.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
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- Article
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
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- 2022
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- Publication type:
- journal article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
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- 2021
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- Publication type:
- journal article
The first European consensus on principles of management for achondroplasia.
- Published in:
- 2021
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- Publication type:
- journal article
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.
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- Children, 2023, v. 10, n. 2, p. 356, doi. 10.3390/children10020356
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- Article
Identification of copy‐number variants in patients with overgrowth disorders.
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- Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
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- Publication type:
- Article
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
- Published in:
- 2021
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- Publication type:
- journal article
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
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- 2019
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- Publication type:
- journal article
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1163, doi. 10.1002/jimd.12551
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- Publication type:
- Article
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
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- Publication type:
- Article
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
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- Publication type:
- Article
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 28, doi. 10.1002/mgg3.257
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- Publication type:
- Article
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
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- Endocrine (1355008X), 2015, v. 49, n. 1, p. 139, doi. 10.1007/s12020-014-0450-4
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- Article
A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 55, doi. 10.3390/ijns9040055
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- Publication type:
- Article
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.652454
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- Publication type:
- Article
Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects.
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- Prenatal Diagnosis, 2006, v. 26, n. 6, p. 577, doi. 10.1002/pd.1468
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- Publication type:
- Article
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
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- Publication type:
- 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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- Publication type:
- Article
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum.
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- Human Mutation, 2012, v. 33, n. 10, p. 1444, doi. 10.1002/humu.22133
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- Publication type:
- Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
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- Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298
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- Article