Prenatal diagnosis for cystic fibrosis using SSCP analysis

Characterization of human isogenic epithelial cell lines as a relevant tool to study colon carcinogenesis and interactions between genes and environment.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association·2026

Nutrition-induced advanced puberty in dairy heifers does not affect ovarian response or oocyte in vitro competence despite reduced oocyte mitochondrial transcripts.

Animal : an international journal of animal bioscience·2026

Are olfactory stimuli able to induce emotional responses in a positive context in ewes?

Animal : an international journal of animal bioscience·2025

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2018

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Scientific reports·2017

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Prenatal diagnosis·2026

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Prenatal diagnosis·2026

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

Prenatal diagnosis·2026

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Prenatal diagnosis·2026

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Prenatal diagnosis·2026

Prevalence of West Nile Virus in Children Being Evaluated for Lyme Disease.

Vector borne and zoonotic diseases (Larchmont, N.Y.)·2026

Multidrug resistance and genomic characteristics of nontypeable Haemophilus influenzae isolates from the respiratory tract of pediatric patients.

Microbiology spectrum·2026

Anatomic Classifications and Functional Outcomes in Preaxial Polydactyly of the Hand.

Journal of pediatric orthopedics·2026

Association between acute kidney injury and late-onset sepsis in newborns.

Journal of nephrology·2026

Thrombin generation parameters provide independent information on plasma coagulation potential in pediatric patients on extracorporeal membrane oxygenation: a prospective, single-center pilot study.

Research and practice in thrombosis and haemostasis·2026

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Prenatal diagnosis for cystic fibrosis using SSCP analysis

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Characterization of human isogenic epithelial cell lines as a relevant tool to study colon carcinogenesis and interactions between genes and environment.

Nutrition-induced advanced puberty in dairy heifers does not affect ovarian response or oocyte in vitro competence despite reduced oocyte mitochondrial transcripts.

Are olfactory stimuli able to induce emotional responses in a positive context in ewes?

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Prevalence of West Nile Virus in Children Being Evaluated for Lyme Disease.

Multidrug resistance and genomic characteristics of nontypeable Haemophilus influenzae isolates from the respiratory tract of pediatric patients.

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Prenatal diagnosis for cystic fibrosis using SSCP analysis

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