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A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.

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A visual pitfall: persistent Müllerian duct syndrome (PMDS).

Acta paediatrica (Oslo, Norway : 1992)·2007

Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.

The Journal of clinical endocrinology and metabolism·2001

Ovarian granulosa cell tumors express a functional membrane receptor for anti-Müllerian hormone in transgenic mice.

Endocrinology·2001

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Human genetics·2000

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses.

Annals of human genetics·2026

What Uniparental Lineages Tell Us About the Prehistoric Human Colonization of the Americas.

Annals of human genetics·2026

Genomic Structural Equation Modeling Identifies a Shared Inflammatory Genetic Dimension Across Inflammatory Arthritis Phenotypes and Biomarkers.

Annals of human genetics·2026

Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study.

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Decoding the Genetic and Phenotypic Spectrum of MT-TI Mitochondrial Diseases.

Annals of human genetics·2026

Ancestry-Stratified Variant Classification in Monogenic Diabetes Genes: Annotation Coverage and Differential Curation Burden.

Annals of human genetics·2026

Robotic handling preserves iPSC-derived vascular smooth muscle cell differentiation.

Materials today. Bio·2026

Microfluidic-based rapid generation of chimeric antigen receptor T cells improves low-multiplicity-of-infection transduction efficiency while preserving functional activity.

Journal of translational medicine·2026

Conditional dCas12-Mediated Gene Knockdown and Complementation in Chlamydia.

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

Inducible Protein Knockdown via Engineered Small RNAs in Chlamydia.

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

Non-invasive CT-based simulation of third ventricle puncture: Identifying optimal surface landmark-guided trajectories using 3D Slicer.

World neurosurgery·2026

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Environment international·2026

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Regulation in man times man somatic cell hybrids: possible negative control of arylsulphatase A

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Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.

A visual pitfall: persistent Müllerian duct syndrome (PMDS).

Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.

Ovarian granulosa cell tumors express a functional membrane receptor for anti-Müllerian hormone in transgenic mice.

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses.

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Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study.

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Ancestry-Stratified Variant Classification in Monogenic Diabetes Genes: Annotation Coverage and Differential Curation Burden.

Robotic handling preserves iPSC-derived vascular smooth muscle cell differentiation.

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Regulation in man times man somatic cell hybrids: possible negative control of arylsulphatase A

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