Phenotypic variation in the popliteal pterygium syndrome

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Journal of medical genetics·2009

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Clinical genetics·2008

Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team.

Epidemiology and infection·2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Clinical genetics·2007

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Journal of medical genetics·2005

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Journal of medical genetics·2003

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

CsZAT12 interacts with CsNAC87 to repress chlorophyll accumulation in albino leaves of tea plants.

Horticulture research·2026

The complete and annotated mitochondrial genome of Hemileia vastatrix Race I, causal agent of coffee leaf rust.

F1000Research·2026

Proteomics of Pteridium aquilinum provides insights on stem lignification mechanisms.

Annals of botany·2026

α-1,3-Glucan Is Required for Cell Wall Integrity and Full Virulence of Colletotrichum graminicola, but Not for Evasion of PAMP-Triggered Immunity.

Molecular microbiology·2026

Glycan recognition by a plant damage-sensing immune receptor.

Science (New York, N.Y.)·2026

Isolation, characterization, and pathogenic mechanisms of a novel Lawsonia intracellularis train from Guangdong, China: impacts on digestive enzymes and gut microbiota.

Frontiers in cellular and infection microbiology·2026

Related Experiment Videos

Phenotypic variation in the popliteal pterygium syndrome

Related Concept Videos

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

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?

CsZAT12 interacts with CsNAC87 to repress chlorophyll accumulation in albino leaves of tea plants.

The complete and annotated mitochondrial genome of Hemileia vastatrix Race I, causal agent of coffee leaf rust.

Proteomics of Pteridium aquilinum provides insights on stem lignification mechanisms.

α-1,3-Glucan Is Required for Cell Wall Integrity and Full Virulence of Colletotrichum graminicola, but Not for Evasion of PAMP-Triggered Immunity.

Glycan recognition by a plant damage-sensing immune receptor.

Isolation, characterization, and pathogenic mechanisms of a novel Lawsonia intracellularis train from Guangdong, China: impacts on digestive enzymes and gut microbiota.

Related Experiment Videos

Phenotypic variation in the popliteal pterygium syndrome

Related Concept Videos

Related Articles