[Human genome project: medicine in the light of evolution]

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Molecular syndromology·2012

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.

Journal of applied genetics·2010

UV filters for hair protection.

International journal of cosmetic science·2009

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics·2007

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

Casopis lekaru ceskych·2006

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

Casopis lekaru ceskych·2006

[Multiple myeloma as an occupational disease after long-term benzene exposure in a distillery - a case report].

Deutsche medizinische Wochenschrift (1946)·2026

[Chronic Cough].

Deutsche medizinische Wochenschrift (1946)·2026

[Lipid-lowering therapy in transition: implications of the ESC/EAS focused update].

Deutsche medizinische Wochenschrift (1946)·2026

[Re-thinking Organ Donation: Structural development, Multiprofessional Collaboration, and Data-Driven Research].

Deutsche medizinische Wochenschrift (1946)·2026

[Lung Ultrasonography in Intensive Care Medicine].

Deutsche medizinische Wochenschrift (1946)·2026

[Cholangiocarcinoma as a model disease: new pathways in personalized medicine].

Deutsche medizinische Wochenschrift (1946)·2026

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

American journal of medical genetics. Part A·2026

Genetic control of local mutation rates.

Proceedings of the National Academy of Sciences of the United States of America·2026

Deep Sequencing of Hepatitis B Virus Reveals Clinically Relevant Low-Frequency Variants Among People Living with HIV in Botswana.

Viruses·2026

Diverse Genomic Mechanisms of cfiA Activation in Carbapenem-Resistant Bacteroides fragilis Clinical Isolates from Korea.

Antibiotics (Basel, Switzerland)·2026

Updating the RZooRoH Package for the Analysis of Inbreeding, Identity-By-Descent and Relatedness From Genomic Data.

Molecular ecology resources·2026

A single-cell transcriptome atlas reveals paradoxical monoallelic expression of RNA editing and heterozygous SNPs.

Nucleic acids research·2026

Related Experiment Videos

[Human genome project: medicine in the light of evolution]

Related Concept Videos

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.

UV filters for hair protection.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

[Multiple myeloma as an occupational disease after long-term benzene exposure in a distillery - a case report].

[Chronic Cough].

[Lipid-lowering therapy in transition: implications of the ESC/EAS focused update].

[Re-thinking Organ Donation: Structural development, Multiprofessional Collaboration, and Data-Driven Research].

[Lung Ultrasonography in Intensive Care Medicine].

[Cholangiocarcinoma as a model disease: new pathways in personalized medicine].

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

Genetic control of local mutation rates.

Deep Sequencing of Hepatitis B Virus Reveals Clinically Relevant Low-Frequency Variants Among People Living with HIV in Botswana.

Diverse Genomic Mechanisms of cfiA Activation in Carbapenem-Resistant Bacteroides fragilis Clinical Isolates from Korea.

Updating the RZooRoH Package for the Analysis of Inbreeding, Identity-By-Descent and Relatedness From Genomic Data.

A single-cell transcriptome atlas reveals paradoxical monoallelic expression of RNA editing and heterozygous SNPs.

Related Experiment Videos

[Human genome project: medicine in the light of evolution]

Related Concept Videos

Related Articles