[Genetic bases of the variability of antibodies]

Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia.

Journal of endocrinological investigation·2010

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

European journal of neurology·2009

Mutations in the lamin B1 gene are not present in multiple sclerosis.

European journal of neurology·2009

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Journal of neurology, neurosurgery, and psychiatry·2009

The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.

Journal of endocrinological investigation·2006

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Journal of medical genetics·2005

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Pathologica·2026

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Pathologica·2026

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Pathologica·2026

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Pathologica·2026

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Pathologica·2026

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Pathologica·2026

Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability.

Psychiatric genetics·2026

Leucine-rich glioma inactivated 1 (LGI1) is a ganglioside-binding protein.

FEBS letters·2026

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.

International journal of molecular sciences·2026

The genome sequence of the Tufted Button, Acleris cristana (Denis & Schiffermüller, 1775).

Wellcome open research·2026

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

Journal of medical cases·2026

The genome sequence of Natterer's Bat, Myotis nattereri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Wellcome open research·2026

Related Experiment Videos

[Genetic bases of the variability of antibodies]

Related Concept Videos

Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia.

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

Mutations in the lamin B1 gene are not present in multiple sclerosis.

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability.

Leucine-rich glioma inactivated 1 (LGI1) is a ganglioside-binding protein.

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.

The genome sequence of the Tufted Button, Acleris cristana (Denis & Schiffermüller, 1775).

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

The genome sequence of Natterer's Bat, Myotis nattereri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Related Experiment Videos

[Genetic bases of the variability of antibodies]

Related Concept Videos

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