The timing of twinning: more insights from X inactivation

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Blood·2022

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

Oral diseases·2008

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.

Blood·2001

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

American journal of human genetics·2001

TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis.

Clinical immunology (Orlando, Fla.)·2001

Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.

American journal of medical genetics·2001

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

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

American journal of human genetics·2026

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Nature and science of sleep·2026

Replication stress links Geminin depletion to centrosome amplification.

bioRxiv : the preprint server for biology·2026

Comparative Kd analysis of the interaction between aggregation-prone Nup153 3-2 and KapN.

Journal of magnetic resonance (San Diego, Calif. : 1997)·2026

Organelle partitioning in the multi-budding yeast Aureobasidium pullulans.

Molecular biology of the cell·2026

Pronuclear Transfer and Maternal Spindle Transfer in the Mouse.

Methods in molecular biology (Clifton, N.J.)·2026

Molecular architecture and spatial organization of proteasomes in the human sperm nucleus.

Nature structural & molecular biology·2026

Related Experiment Videos

The timing of twinning: more insights from X inactivation

Related Concept Videos

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis.

Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.

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.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Replication stress links Geminin depletion to centrosome amplification.

Comparative Kd analysis of the interaction between aggregation-prone Nup153 3-2 and KapN.

Organelle partitioning in the multi-budding yeast Aureobasidium pullulans.

Pronuclear Transfer and Maternal Spindle Transfer in the Mouse.

Molecular architecture and spatial organization of proteasomes in the human sperm nucleus.

Related Experiment Videos

The timing of twinning: more insights from X inactivation

Related Concept Videos

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