High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

The first mutation in CNGA2 in two brothers with anosmia.

Clinical genetics·2014

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Human genetics·2013

Chemotaxis in tetrahymena.

European journal of protistology·2012

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Gene·2012

Genetic studies in congenital anterior midline cervical cleft.

American journal of medical genetics. Part A·2012

Genetic heterogeneity in Pakistani microcephaly families.

Clinical genetics·2012

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

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

Determinants of functional burden pleiotropy and gene dosage responses across human traits.

Nature communications·2026

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory·2026

Audiological Features in Pendred Syndrome: A Scoping Review.

The journal of international advanced otology·2026

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Journal of blood medicine·2026

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.

Journal of molecular neuroscience : MN·2026

Related Experiment Videos

High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

Related Concept Videos

The first mutation in CNGA2 in two brothers with anosmia.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Chemotaxis in tetrahymena.

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Genetic studies in congenital anterior midline cervical cleft.

Genetic heterogeneity in Pakistani microcephaly families.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

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.

Determinants of functional burden pleiotropy and gene dosage responses across human traits.

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Audiological Features in Pendred Syndrome: A Scoping Review.

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.

Related Experiment Videos

High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome

Related Concept Videos

Related Articles