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A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
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- Diseases, 2024, v. 12, n. 10, p. 248, doi. 10.3390/diseases12100248
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- Article
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.
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- Molecular Syndromology, 2023, v. 14, n. 4, p. 341, doi. 10.1159/000528980
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- Article
Asociación entre hallazgos tomográficos pulmonares y la severidad clínica del SDRA en adultos con neumonía por COVID-19.
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- Anales de Radiologia, Mexico, 2023, v. 22, n. 4, p. 292, doi. 10.24875/ARM.23000002
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- Article
An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 942, doi. 10.1002/ajmg.a.35262
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- Article
Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide‐binding oligomerization domain‐containing protein 2 gene with good response to infliximab.
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- Pediatric Dermatology, 2018, v. 35, n. 3, p. e180, doi. 10.1111/pde.13475
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- Article
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
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- Biology (2079-7737), 2024, v. 13, n. 3, p. 173, doi. 10.3390/biology13030173
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- Article
Relevancia de la secuenciación de nueva generación en el diagnóstico de cáncer de mama y dos mutaciones descritas por primera vez en población mexicana.
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- Salud Pública de México, 2023, v. 65, n. 2, p. 191, doi. 10.21149/14026
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- Article
A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
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- Cytogenetic & Genome Research, 2015, v. 145, n. 1, p. 1, doi. 10.1159/000381234
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- Article
Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.
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- Molecular Syndromology, 2016, v. 7, n. 2, p. 87, doi. 10.1159/000445669
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- Article
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.
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- Molecular Syndromology, 2016, v. 7, n. 1, p. 32, doi. 10.1159/000444771
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- Article
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.
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- Molecular Syndromology, 2016, v. 6, n. 5, p. 229, doi. 10.1159/000442477
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- Article