Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

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Characterization of promoter regulatory elements involved in downexpression of the DNA polymerase kappa in colorectal cancer.

Oncogene·2006

Genetic Variability of Trypanosoma cruzi:Implications for the Pathogenesis of Chagas Disease.

Parasitology today (Personal ed.)·2006

Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade.

Annals of human genetics·2002

Relationship between Trypanosoma cruzi and human chagasic megaesophagus: blood and tissue parasitism.

The American journal of tropical medicine and hygiene·2001

Molecular cloning and characterization of the DNA mismatch repair gene class 2 from the Trypanosoma cruzi.

Gene·2001

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

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Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Outcomes of Vitreoretinal Surgery for X-Linked Retinoschisis: A Systematic Review and Meta-Analysis of the Current Literature.

Journal of current ophthalmology·2026

A visual evoked potential and optical coherence tomography cross-sectional study in patients with Behcet's disease.

Journal of neuroimmunology·2026

Coats disease: A narrative review of clinical spectrum, imaging features, and contemporary management.

Science progress·2026

Vision and Foraging in Structurally Complex Habitats: Common Moorhens (Gallinula chloropus) See the Way Ahead.

Ecology and evolution·2026

Nailfold capillaroscopy in diabetic retinopathy: microvascular insights, clinical value, and translational challenges - a narrative review.

Frontiers in endocrinology·2026

Headache as an extraocular manifestation of birdshot chorioretinopathy: a case series.

Frontiers in ophthalmology·2026

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Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

Related Concept Videos

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Characterization of promoter regulatory elements involved in downexpression of the DNA polymerase kappa in colorectal cancer.

Genetic Variability of Trypanosoma cruzi:Implications for the Pathogenesis of Chagas Disease.

Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade.

Relationship between Trypanosoma cruzi and human chagasic megaesophagus: blood and tissue parasitism.

Molecular cloning and characterization of the DNA mismatch repair gene class 2 from the Trypanosoma cruzi.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Outcomes of Vitreoretinal Surgery for X-Linked Retinoschisis: A Systematic Review and Meta-Analysis of the Current Literature.

A visual evoked potential and optical coherence tomography cross-sectional study in patients with Behcet's disease.

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Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

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