Marfan syndrome: a mystery solved

Detection of circulating tumour cells in peripheral blood with an automated scanning fluorescence microscope.

British journal of cancer·2008

Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta.

Gene therapy·2003

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Clinical genetics·2003

Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta.

Antisense & nucleic acid drug development·2002

Distal limb malformations: underlying mechanisms and clinical associations.

Clinical genetics·2001

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

American journal of medical genetics·2001

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Journal of medical genetics·2026

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Journal of medical genetics·2026

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics·2026

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026

Bridging the Art and Science: A Symposium Honoring Prof. Luis M. Liz-Marzán for the Dong Qin ACS Award in Nanochemistry.

ACS nano·2026

Insights into the Possible Composition of a Martian Biota.

Astrobiology·2026

The 2026 Richard Perham Prize winner: Angela M. Gronenborn.

The FEBS journal·2026

Danolestes moelleri gen. et sp. nov., the first lestoid (Zygoptera: Odonata) from the early Ypresian Fur Formation of Denmark shows faunistic affinity to South America.

Zootaxa·2026

The northernmost Eocene genus and species of praying mantises (Mantodea Burmeister, 1838) from Fur Formation, Denmark.

Zootaxa·2026

Results and survival of Fassier-Duval rods in children with moderate Osteogenesis Imperfecta: a retrospective study in 36 cases

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)·2026

Related Experiment Videos

Marfan syndrome: a mystery solved

Related Concept Videos

Detection of circulating tumour cells in peripheral blood with an automated scanning fluorescence microscope.

Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta.

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta.

Distal limb malformations: underlying mechanisms and clinical associations.

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Bridging the Art and Science: A Symposium Honoring Prof. Luis M. Liz-Marzán for the Dong Qin ACS Award in Nanochemistry.

Insights into the Possible Composition of a Martian Biota.

The 2026 Richard Perham Prize winner: Angela M. Gronenborn.

Danolestes moelleri gen. et sp. nov., the first lestoid (Zygoptera: Odonata) from the early Ypresian Fur Formation of Denmark shows faunistic affinity to South America.

The northernmost Eocene genus and species of praying mantises (Mantodea Burmeister, 1838) from Fur Formation, Denmark.

Results and survival of Fassier-Duval rods in children with moderate Osteogenesis Imperfecta: a retrospective study in 36 cases

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Marfan syndrome: a mystery solved

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