Chromosome translocations in fibroblast cultures derived from patients with Werner's syndrome

Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2004

Cost analysis of Down syndrome screening in advanced maternal age.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2003

Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2002

Role of ultrasound for Down syndrome screening in advanced maternal age.

American journal of obstetrics and gynecology·2001

Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement.

Prenatal diagnosis·2001

Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome.

Annals of clinical biochemistry·2001

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

American journal of human genetics·2026

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

American journal of human genetics·2026

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

American journal of human genetics·2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

American journal of human genetics·2026

Risk of metachronous esophageal squamous cell carcinoma after endoscopic submucosal dissection in patients with multiple Lugol-voiding lesions: a long-term study.

Endoscopy·2026

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Chromosome translocations in fibroblast cultures derived from patients with Werner's syndrome

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Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin.

Cost analysis of Down syndrome screening in advanced maternal age.

Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis.

Role of ultrasound for Down syndrome screening in advanced maternal age.

Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement.

Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome.

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

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Chromosome translocations in fibroblast cultures derived from patients with Werner's syndrome

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