Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene

Dihydroceramide- and ceramide-profiling provides insights into human cardiometabolic disease etiology.

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Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals.

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32-channel time-correlated-single-photon-counting system for high-throughput lifetime imaging.

The Review of scientific instruments·2017

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.

Molecular psychiatry·2011

Restless legs syndrome: an update on genetics and future perspectives.

Clinical genetics·2007

The P2Y nucleotide receptors in the human genome.

Acta biologica Hungarica·2003

Sparsomycin inhibits translation through a conserved mechanism across all domains of life.

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Crystal structures of type T archaeal ribonuclease P Rpp30, Rpp30/Pop5, and L7Ae provide insights into a reduced RNase P.

Nucleic acids research·2026

Partitioning of parental histones between leading and lagging strands is modulated by DNA polymerase dosage.

Nucleic acids research·2026

RNase E resolves toxic condensates by counteracting phase separation of Type II RhlB helicases.

Nucleic acids research·2026

A CRISPR/Cas9-induced blunt-end telomere system in S. pombe reveals RNase H2-dependent RNA primer removal at the terminal Okazaki fragment of lagging telomeres.

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ZNF512B associates with mitotic spindles, regulates metaphase exit, and is crucial for stem cell differentiation.

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Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

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Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene

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Dihydroceramide- and ceramide-profiling provides insights into human cardiometabolic disease etiology.

Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals.

32-channel time-correlated-single-photon-counting system for high-throughput lifetime imaging.

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.

Restless legs syndrome: an update on genetics and future perspectives.

The P2Y nucleotide receptors in the human genome.

Sparsomycin inhibits translation through a conserved mechanism across all domains of life.

Crystal structures of type T archaeal ribonuclease P Rpp30, Rpp30/Pop5, and L7Ae provide insights into a reduced RNase P.

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RNase E resolves toxic condensates by counteracting phase separation of Type II RhlB helicases.

A CRISPR/Cas9-induced blunt-end telomere system in S. pombe reveals RNase H2-dependent RNA primer removal at the terminal Okazaki fragment of lagging telomeres.

ZNF512B associates with mitotic spindles, regulates metaphase exit, and is crucial for stem cell differentiation.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

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Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene

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