An atypical case of Cockayne's syndrome

[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Der Nervenarzt·2005

Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.

American journal of medical genetics. Part A·2004

A comparative ZOO-FISH analysis in bats elucidates the phylogenetic relationships between Megachiroptera and five microchiropteran families.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology·2002

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

American journal of medical genetics·2001

Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

Prenatal diagnosis·2000

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

European journal of human genetics : EJHG·2000

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

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

Clinical genetics·2026

Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Frontiers in medicine·2026

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Molecules (Basel, Switzerland)·2026

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Cureus·2026

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

Frontiers in medicine·2026

[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].

Annales de pathologie·2026

Nitrous Oxide-Induced Pancytopenia and Peripheral Neuropathy From Chronic Whip-It™ Use: A Case Report.

Cureus·2026

Related Experiment Videos

An atypical case of Cockayne's syndrome

Related Concept Videos

[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.

A comparative ZOO-FISH analysis in bats elucidates the phylogenetic relationships between Megachiroptera and five microchiropteran families.

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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

Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].

Nitrous Oxide-Induced Pancytopenia and Peripheral Neuropathy From Chronic Whip-It™ Use: A Case Report.

Related Experiment Videos

An atypical case of Cockayne's syndrome

Related Concept Videos

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