Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

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

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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.

Clinical genetics·2017

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

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

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

Developmental biology·2015

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

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

Human mutation·2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Human mutation·2026

OM-sqPCR enables one-step multiplex quantification of circulating small-RNA subclasses for colorectal cancer classification.

iScience·2026

Recombinant Annexin A5 Alleviates Aluminum Chloride-Induced Cytotoxicity, Mitochondrial Dysfunction, and Apoptotic Signaling in SH-SY5Y Cells.

Iranian journal of medical sciences·2026

Analysis of sulfated sialic acids by liquid chromatography coupled with high-resolution mass spectrometry and fluorescence detection.

BBA advances·2026

Direct injection and automated pressurized extraction coupled to high-resolution mass spectrometry for the quantification of organophosphate flame retardants in water, soil and dust.

Talanta·2026

Postoperative sensorineural hearing loss associated with prolonged hypocalcemia.

JCEM case reports·2026

A Novel Polarity Switching LC-MS/MS Method for Simultaneous Quantification of Drospirenone and Estetrol: Application to Pharmacokinetic Studies in Human Plasma.

Biomedical chromatography : BMC·2026

Related Experiment Videos

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

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.

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

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

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Analysis of sulfated sialic acids by liquid chromatography coupled with high-resolution mass spectrometry and fluorescence detection.

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Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

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