Chondrodysplasia punctata and maternal systemic lupus erythematosus

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Clinical genetics·2009

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Journal of medical genetics·2002

Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome.

Clinical dysmorphology·1999

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

Clinical dysmorphology·1999

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.

American journal of medical genetics·1998

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

American journal of medical genetics·1997

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

There's Still Plenty to Do in Photocatalysis.

Chimia·2026

Melphalan-induced serpentine supravenous hyperpigmentation with associated venous thrombosis.

Oxford medical case reports·2026

Successful Management and Treatment Rechallenge Following Docetaxel-Induced Serpentine Supravenous Hyperpigmentation With Bullous Features: A Case Report.

Clinical case reports·2026

Csf1-Csf1r expression and late circulating CSF1 elevation during P23H retinal degeneration.

Experimental and molecular pathology·2026

4CzIPN Photosensitizes the Cobaloxime-Catalyzed Light-Driven Hydrogen Evolution Reaction.

ChemSusChem·2026

Coexistence of Acantholytic Dyskeratosis and Epidermolytic Hyperkeratosis in a Single Cutaneous Lesion: A Case Report and Brief Review.

The American Journal of dermatopathology·2026

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Chondrodysplasia punctata and maternal systemic lupus erythematosus

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Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome.

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

There's Still Plenty to Do in Photocatalysis.

Melphalan-induced serpentine supravenous hyperpigmentation with associated venous thrombosis.

Successful Management and Treatment Rechallenge Following Docetaxel-Induced Serpentine Supravenous Hyperpigmentation With Bullous Features: A Case Report.

Csf1-Csf1r expression and late circulating CSF1 elevation during P23H retinal degeneration.

4CzIPN Photosensitizes the Cobaloxime-Catalyzed Light-Driven Hydrogen Evolution Reaction.

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Chondrodysplasia punctata and maternal systemic lupus erythematosus

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