Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

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Haemophilia : the official journal of the World Federation of Hemophilia·2016

DMRT1 is required for Müllerian duct formation in the chicken embryo.

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The molecular genetics of ovarian differentiation in the avian model.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2012

Redd1 is a novel marker of testis development but is not required for normal male reproduction.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2012

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

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Human mutation·2026

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Human mutation·2026

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Human mutation·2026

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Human mutation·2026

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Human mutation·2026

Structure-guided identification of catalytic determinants in ZmGA20ox enables rational CRISPR target selection for gibberellin engineering in maize.

Frontiers in plant science·2026

Structural Evolution of LEAFY Reveals DNA-Mediated Cooperativity and Dimerization Shifts at the Water-to-Land Transition.

Molecular plant·2026

Splicing suppression alters the STING transcription start site to attenuate antiviral innate immunity.

Proceedings of the National Academy of Sciences of the United States of America·2026

VMP1 restricts STING trafficking and activation through controlling CDIPT recruitment to ER membrane curvature.

Cell death and differentiation·2026

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Journal of computational chemistry·2026

Related Experiment Videos

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

Related Concept Videos

Investigating the efficacy of baricitinib in new onset type 1 diabetes mellitus (BANDIT)-study protocol for a phase 2, randomized, placebo controlled trial.

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

Subdural haemorrhage as a predisposing factor for hyponatraemic convulsions in an infant undergoing test dose DDAVP infusion.

DMRT1 is required for Müllerian duct formation in the chicken embryo.

The molecular genetics of ovarian differentiation in the avian model.

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Structure-guided identification of catalytic determinants in ZmGA20ox enables rational CRISPR target selection for gibberellin engineering in maize.

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Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

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