Diseases of the genome. An interview with Victor A. McKusick

The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

JAMA·2001

The sequence of the human genome.

Science (New York, N.Y.)·2001

Implications of the Human Genome Project for medical science.

JAMA·2001

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Clinical genetics·2000

Online Mendelian Inheritance in Man (OMIM).

Human mutation·1999

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

Prenatal diagnosis·1999

COVID-19 Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

JAMA·2026

Influenza Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

JAMA·2026

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JAMA·2026

Prognostic Role of Mid-Regional Proadrenomedullin in Patients Undergoing Emergency Laparotomy: An Exploratory Study.

Cureus·2026

From Inhibitor to Reporter: Nirmatrelvir-Derived Fluorogenic Substrates for the SARS-CoV-2 Main Protease.

ACS chemical biology·2026

Single-cell transcriptomics unveils PM2.5 exposure-induced mouse reproductive damage linked to embryonic developmental defects.

Ecotoxicology and environmental safety·2026

Causal associations of gastroesophageal reflux disease with sepsis and sepsis mortality within 28 days: A bidirectional 2-sample Mendelian randomization study.

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Incarcerated right inguinal Littre's hernia in a 30-year-old male: case report from a low-resource setting.

International journal of surgery case reports·2026

A Narrative Review of Airway and Gut Microbiota in Chronic Obstructive Pulmonary Disease: Clinical Associations, Methodological Heterogeneity, and Translational Priorities.

Cureus·2026

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Diseases of the genome. An interview with Victor A. McKusick

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The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

The sequence of the human genome.

Implications of the Human Genome Project for medical science.

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Online Mendelian Inheritance in Man (OMIM).

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

COVID-19 Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

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Prognostic Role of Mid-Regional Proadrenomedullin in Patients Undergoing Emergency Laparotomy: An Exploratory Study.

From Inhibitor to Reporter: Nirmatrelvir-Derived Fluorogenic Substrates for the SARS-CoV-2 Main Protease.

Single-cell transcriptomics unveils PM2.5 exposure-induced mouse reproductive damage linked to embryonic developmental defects.

Causal associations of gastroesophageal reflux disease with sepsis and sepsis mortality within 28 days: A bidirectional 2-sample Mendelian randomization study.

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Diseases of the genome. An interview with Victor A. McKusick

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