[Turner's syndrome. Clinical characteristics and cytogenetic findings in 11 cases]

[Prader-Willi syndrome. Treatment with growth hormone in 2 cases].

Revista medica de Chile·2002

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.

Prenatal diagnosis·2001

[Germline mutations of the ret proto-oncogene in Chilean patients with hereditary and sporadic medullary thyroid carcinoma].

Revista medica de Chile·2001

Accuracy of the haemoglobin alkaline denaturation test for detecting maternal blood contamination of fetal blood samples for prenatal karyotyping.

Prenatal diagnosis·1999

Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.

Prenatal diagnosis·1999

[Spontaneous abortion: cytogenetic study of 609 cases].

Revista medica de Chile·1997

Differential Diagnosis of ACTH-Dependent Hypercortisolism: Case Report and Literature Review.

Revista medica de Chile·2026

Impact and Future Outlook of Artificial Intelligence in Universities and Medical Education.

Revista medica de Chile·2026

Chilean Multidisciplinary Consensus on the Use of GLP-1 Receptor Agonists: Recommendations Based on the GRADE Methodology.

Revista medica de Chile·2026

Nutritional, Cardiometabolic, and Psychosocial Profile of Transgender People Undergoing Hormone Therapy in La Araucanía, Chile: A Descriptive Exploratory Study.

Revista medica de Chile·2026

Clinical Impact of a Molecular Pneumonia Panel in Adult Patients Hospitalized with Severe COVID-19 and Ventilator-Associated Pneumonia at a Peruvian Hospital.

Revista medica de Chile·2026

Sociodemographic, Mental Health, Loneliness, and Clinical Predictors Associated with Physical Frailty in Community-Dwelling Older Adults Over a One-Year Follow-Up.

Revista medica de Chile·2026

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Human genetics·2026

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.

Diagnostics (Basel, Switzerland)·2026

Overcoming the nuclear barrier in nonviral gene therapy: mechanisms, carrier design, and translational perspectives on NLS peptide and DNA targeting sequence strategies.

Drug delivery·2026

Structural defects in male meiotic cell division lead to reproductive genome instability and disturbed microsporogenesis in banana (Musa spp.).

Frontiers in plant science·2026

Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12a.

Human mutation·2026

Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Related Experiment Videos

[Turner's syndrome. Clinical characteristics and cytogenetic findings in 11 cases]

Related Concept Videos

[Prader-Willi syndrome. Treatment with growth hormone in 2 cases].

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.

[Germline mutations of the ret proto-oncogene in Chilean patients with hereditary and sporadic medullary thyroid carcinoma].

Accuracy of the haemoglobin alkaline denaturation test for detecting maternal blood contamination of fetal blood samples for prenatal karyotyping.

Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.

[Spontaneous abortion: cytogenetic study of 609 cases].

Differential Diagnosis of ACTH-Dependent Hypercortisolism: Case Report and Literature Review.

Impact and Future Outlook of Artificial Intelligence in Universities and Medical Education.

Chilean Multidisciplinary Consensus on the Use of GLP-1 Receptor Agonists: Recommendations Based on the GRADE Methodology.

Nutritional, Cardiometabolic, and Psychosocial Profile of Transgender People Undergoing Hormone Therapy in La Araucanía, Chile: A Descriptive Exploratory Study.

Clinical Impact of a Molecular Pneumonia Panel in Adult Patients Hospitalized with Severe COVID-19 and Ventilator-Associated Pneumonia at a Peruvian Hospital.

Sociodemographic, Mental Health, Loneliness, and Clinical Predictors Associated with Physical Frailty in Community-Dwelling Older Adults Over a One-Year Follow-Up.

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.

Overcoming the nuclear barrier in nonviral gene therapy: mechanisms, carrier design, and translational perspectives on NLS peptide and DNA targeting sequence strategies.

Structural defects in male meiotic cell division lead to reproductive genome instability and disturbed microsporogenesis in banana (Musa spp.).

Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12a.

Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations.

Related Experiment Videos

[Turner's syndrome. Clinical characteristics and cytogenetic findings in 11 cases]

Related Concept Videos

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