Found: 15
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The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 11, p. 1723, doi. 10.3390/life12111723
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- Publication type:
- Article
Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1515, doi. 10.1002/ajmg.a.62678
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- Publication type:
- Article
Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65227-6
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- Publication type:
- Article
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0438-0
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- Publication type:
- Article
Sustitución valvular aórtica en paciente con artritis reumatoide: un reto para el manejo de vía aérea difícil.
- Published in:
- Revista Mexicana de Anestesiología, 2018, v. 41, n. 4, p. 297
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- Publication type:
- Article
Consenso mexicano de tirosinemia tipo 1.
- Published in:
- Boletín Médico del Hospital Infantil de México, 2024, v. 81, p. 1
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- Publication type:
- Article
Indicaciones actuales para el diagnóstico prenatal invasivo. Nuevas propuestas basadas en la experiencia del Instituto Nacional de Perinatología.
- Published in:
- Ginecología y Obstetricia de México, 2013, v. 81, n. 8, p. 454
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- Publication type:
- Article
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
- Published in:
- Children, 2023, v. 10, n. 12, p. 1865, doi. 10.3390/children10121865
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- Publication type:
- Article
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
- Published in:
- Children, 2021, v. 8, n. 6, p. 1, doi. 10.3390/children8060457
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- Publication type:
- Article
EDITING THE HUMAN GENOME WITH CRISPR/CAS: A REVIEW OF ITS MOLECULAR BASIS, CURRENT CLINICAL APPLICATIONS, AND BIOETHICAL IMPLICATIONS.
- Published in:
- Clinical & Translational Investigation / Revista de Investigación Clínica, 2023, v. 75, n. 1, p. 13, doi. 10.24875/RIC.22000252
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- Publication type:
- Article
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051268
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- Publication type:
- Article
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1293929
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- Publication type:
- Article
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1676, doi. 10.3390/genes12111676
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- Publication type:
- Article
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
- Published in:
- Cytogenetic & Genome Research, 2021, v. 161, n. 12, p. 556, doi. 10.1159/000521225
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- Publication type:
- Article
Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria.
- Published in:
- 2020
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- Publication type:
- Abstract