Fra(16)(q21) in a family with four spontaneous abortions

Genetic abnormalities detected by comparative genomic hybridization in a human endometriosis-derived cell line.

Molecular human reproduction·2000

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb.

European journal of human genetics : EJHG·2000

Cellular and genetic constitution of human endometriosis tissues.

Journal of the Society for Gynecologic Investigation·2000

Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization.

Human genetics·1999

45,X/46,XY mosaicism: report of 27 cases.

Pediatrics·1999

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.

Human genetics·1998

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

Clinical genetics·2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

Mitochondrial Ca2+ homeostasis in ovarian function and oocyte competence: from molecular transporters to early embryonic development.

Frontiers in cell and developmental biology·2026

Estimating and Projecting Efficacy of Monoclonal Antibodies Against Respiratory Syncytial Virus Beyond Clinical Trial Periods.

Vaccines·2026

Biologic Therapy in Pregnant Women with Plaque Psoriasis: A Narrative Review of Maternal and Fetal Safety Considerations.

Pharmaceuticals (Basel, Switzerland)·2026

Preconception and Early-Pregnancy Alcohol Consumption in Women and Men, Infertility and Risk for Miscarriage.

Nutrients·2026

The Impact of First-Trimester Vaginal Microecology on Spontaneous Abortion: A Retrospective Cohort Study.

Pathogens (Basel, Switzerland)·2026

Effects of Fibroid Size and Hyaluronan-Enriched Transfer Medium on Clinical Pregnancy and Live Birth: A Retrospective Study.

Journal of clinical medicine·2026

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Fra(16)(q21) in a family with four spontaneous abortions

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Genetic abnormalities detected by comparative genomic hybridization in a human endometriosis-derived cell line.

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb.

Cellular and genetic constitution of human endometriosis tissues.

Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization.

45,X/46,XY mosaicism: report of 27 cases.

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

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Estimating and Projecting Efficacy of Monoclonal Antibodies Against Respiratory Syncytial Virus Beyond Clinical Trial Periods.

Biologic Therapy in Pregnant Women with Plaque Psoriasis: A Narrative Review of Maternal and Fetal Safety Considerations.

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