Triploidy in man. Cytogenetical and clinical aspects

Novel mutation of the initiation codon of PAX9 causes oligodontia.

Journal of dental research·2004

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Journal of medical genetics·2001

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Journal of medical genetics·2000

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Genomics·1999

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

American journal of medical genetics·1999

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

Human molecular genetics·1997

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Humangenetik·1975

Climate associated variations in the human serum albumin level.

Humangenetik·1975

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Humangenetik·1975

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Humangenetik·1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Humangenetik·1975

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Humangenetik·1975

Regulatory Science of Extracellular Vesicles: From ISEV Standards to Translational Implementation (Insights From Japan).

Journal of extracellular vesicles·2026

Targeted nanomedicines for endoplasmic reticulum stress: organelle-resolved delivery, immune modulation, and genetic reprogramming.

Nanoscale·2026

A Confluence of Risk: An Aboriginal Man, Diabetes, and an SGLT2 Inhibitor.

The Permanente journal·2026

Stepped Octopus-Inspired Architecture Microneedles for Pulmonary Embolism Prevention.

Small (Weinheim an der Bergstrasse, Germany)·2026

Macrophage-Targeted Sod2 mRNA Nanotherapy Reduces Mitochondrial Oxidative Stress and Stabilizes Vulnerable Atherosclerotic Plaques.

Free radical biology & medicine·2026

Pre-operative injectable testosterone therapy is associated with increased five-year revision risk after total shoulder arthroplasty: a TriNetX database analysis.

Journal of shoulder and elbow arthroplasty·2026

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Triploidy in man. Cytogenetical and clinical aspects

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Novel mutation of the initiation codon of PAX9 causes oligodontia.

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Climate associated variations in the human serum albumin level.

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Regulatory Science of Extracellular Vesicles: From ISEV Standards to Translational Implementation (Insights From Japan).

Targeted nanomedicines for endoplasmic reticulum stress: organelle-resolved delivery, immune modulation, and genetic reprogramming.

A Confluence of Risk: An Aboriginal Man, Diabetes, and an SGLT2 Inhibitor.

Stepped Octopus-Inspired Architecture Microneedles for Pulmonary Embolism Prevention.

Macrophage-Targeted Sod2 mRNA Nanotherapy Reduces Mitochondrial Oxidative Stress and Stabilizes Vulnerable Atherosclerotic Plaques.

Pre-operative injectable testosterone therapy is associated with increased five-year revision risk after total shoulder arthroplasty: a TriNetX database analysis.

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Triploidy in man. Cytogenetical and clinical aspects

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