Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation

Trends in serum citrulline and acute rejection among recipients of small bowel transplants.

Transplantation proceedings·2004

X chromosome inactivation: theme and variations.

Cytogenetic and genome research·2003

Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome.

Annales de genetique·2002

Serum citrulline and rejection in small bowel transplantation: a preliminary report.

Transplantation·2001

Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation.

American journal of human genetics·2001

Low-copy-number human transgene is recognized as an X inactivation center in mouse ES cells, but fails to induce cis-inactivation in chimeric mice.

Genomics·2001

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

American journal of human genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

American journal of human genetics·2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

[Dystrophic diseases of the penile skin: modern approaches to therapy].

Urologiia (Moscow, Russia : 1999)·2026

[Retrograde Intrarenal Surgery: Analysis of Efficacy, Safety and Cost-Effectiveness of drug preparation].

Urologiia (Moscow, Russia : 1999)·2026

Ginsenoside Rg3 attenuates osteoarthritis progression by modulating the Nrf2-mediated autophagy pathway.

Connective tissue research·2026

Genetic Variants at the NAT2 and HLA-DOA are Associated With Anti-Tuberculosis Drug-Induced Liver Injury Susceptibility and Clinical Manifestations in Western Chinese Populations.

Immunity, inflammation and disease·2026

Amivantamab plus pembrolizumab in previously untreated recurrent/metastatic head and neck squamous cell cancer: Results from the phase 1b/2 OrigAMI-4 study.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026

CCND1 Stability Regulated by USP7 Deubiquitination Controls Glioma Radioresistance via Ferroptosis.

Analytical cellular pathology (Amsterdam)·2026

Related Experiment Videos

Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation

Related Concept Videos

Trends in serum citrulline and acute rejection among recipients of small bowel transplants.

X chromosome inactivation: theme and variations.

Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome.

Serum citrulline and rejection in small bowel transplantation: a preliminary report.

Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation.

Low-copy-number human transgene is recognized as an X inactivation center in mouse ES cells, but fails to induce cis-inactivation in chimeric mice.

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

[Dystrophic diseases of the penile skin: modern approaches to therapy].

[Retrograde Intrarenal Surgery: Analysis of Efficacy, Safety and Cost-Effectiveness of drug preparation].

Ginsenoside Rg3 attenuates osteoarthritis progression by modulating the Nrf2-mediated autophagy pathway.

Genetic Variants at the NAT2 and HLA-DOA are Associated With Anti-Tuberculosis Drug-Induced Liver Injury Susceptibility and Clinical Manifestations in Western Chinese Populations.

Amivantamab plus pembrolizumab in previously untreated recurrent/metastatic head and neck squamous cell cancer: Results from the phase 1b/2 OrigAMI-4 study.

CCND1 Stability Regulated by USP7 Deubiquitination Controls Glioma Radioresistance via Ferroptosis.

Related Experiment Videos

Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation

Related Concept Videos

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