A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin

[Prognostic significance of retinal microaneurysm number and localization in type-1 diabetes mellitus].

Orvosi hetilap·2001

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool.

European journal of human genetics : EJHG·2000

Microcephaly with normal intelligence, and chorioretinopathy.

Ophthalmic genetics·2000

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

Human molecular genetics·1998

Serum protein and erythrocyte enzyme polymorphisms in twelve population groups of Hungary.

Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur·1995

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

American journal of medical genetics·1994

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

Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.

Molecular psychiatry·2026

Reference-Guided Chromosome-Scale Genome Assembly With Insights on Population Genomics of the Atlantic Goliath Grouper (Epinephelus itajara), Islas del Rosario, Colombia.

Ecology and evolution·2026

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Cureus·2026

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Nature. Mental health·2026

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Wellcome open research·2026

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Hemoglobin·2026

Related Experiment Videos

A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin

Related Concept Videos

[Prognostic significance of retinal microaneurysm number and localization in type-1 diabetes mellitus].

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool.

Microcephaly with normal intelligence, and chorioretinopathy.

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

Serum protein and erythrocyte enzyme polymorphisms in twelve population groups of Hungary.

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

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?

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Reference-Guided Chromosome-Scale Genome Assembly With Insights on Population Genomics of the Atlantic Goliath Grouper (Epinephelus itajara), Islas del Rosario, Colombia.

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Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

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Related Experiment Videos

A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin

Abstract:

Related Concept Videos

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