Prenatal Diagnosis

Neuroblastomes de diagnostic échographique anténatal

Ultrasound / Pregnancy / Humans / Ultrasonography / Female / Male / Neuroblastoma / Prenatal Diagnosis / Adrenal Gland / Clinical Signs / Male / Neuroblastoma / Prenatal Diagnosis / Adrenal Gland / Clinical Signs

Preimplantation diagnosis for ornithine transcarbamylase deficiency

Polymorphism / Preimplantation genetic diagnosis / Prenatal Diagnosis / Polar Body / Metabolic Disorder / Termination of Pregnancy / Embryos / Nested PCR / Termination of Pregnancy / Embryos / Nested PCR

Congenital diaphragmatic hernia: Can prenatal ultrasonography predict outcome?

Pregnancy / Humans / Ultrasonography / Female / Statistical Significance / Cohort Study / Newborn Infant / Infant Mortality / Retrospective Studies / Prognosis / Study design / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Gestational Age / Congenital abnormalities / Fetal death / Cohort Studies / Cohort Study / Newborn Infant / Infant Mortality / Retrospective Studies / Prognosis / Study design / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Gestational Age / Congenital abnormalities / Fetal death / Cohort Studies

Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

Pregnancy / Case Report / Humans / Female / Male / Newborn Infant / Adult / Prenatal Diagnosis / Gestational Age / Pregnancy Outcome / Newborn Infant / Adult / Prenatal Diagnosis / Gestational Age / Pregnancy Outcome

Thoracoscopic segmentectomy: one vessel may hide a second one

Computed Tomography / Humans / Male / Pediatric Surgery / Three Dimensional Imaging / Pediatric / Lung / Ct Scan / Newborn Infant / Prenatal Diagnosis / Thoracic Aorta / Contrast Media / Thoracoscopy / Pulmonary Artery / Pediatric / Lung / Ct Scan / Newborn Infant / Prenatal Diagnosis / Thoracic Aorta / Contrast Media / Thoracoscopy / Pulmonary Artery

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Molecular Biology / Treatment / Pregnancy / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Algorithms / Evidence Based Practice / Comorbidity / Pregnancy / Humans / Mutation / Female / Hormones / Male / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Prenatal Diagnosis / Clinical Endocrinology / Mutation / Female / Hormones / Male / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Prenatal Diagnosis / Clinical Endocrinology

Diagnóstico prenatal de siameses toracoabdominopagos en el primer trimestre de gestación. Caso clínico

Ultrasound / Prenatal Diagnosis / Twin Pregnancy

A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula

Italy / Pregnancy / Humans / Female / Male / Pediatric Surgery / Young Adult / Incidence / Newborn Infant / Adult / Prenatal Diagnosis / Cross Sectional Studies / Pediatric Surgery / Young Adult / Incidence / Newborn Infant / Adult / Prenatal Diagnosis / Cross Sectional Studies

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Genetics / Family / Cystic Fibrosis / Humans / Child / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data

Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

Genetics / Electron Microscopy / Cell Culture / Biopsy / Humans / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase

Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

Genetics / Electron Microscopy / Cell Culture / Biopsy / Humans / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase

Placental protein measurements in complicated pregnancies. III. Premature labour

Pregnancy / Humans / Hypertension / Female / Prenatal Diagnosis / Gestational Age

Miocardiopatía hipertrófica intraútero y síndrome de Noonan neonatal: una asociación a recordar

Electrocardiography / Echocardiography / Pregnancy / Humans / Mutation / Female / Adult / Prenatal Diagnosis / Noonan syndrome / Hypertrophic Cardiomyopathy / Female / Adult / Prenatal Diagnosis / Noonan syndrome / Hypertrophic Cardiomyopathy

Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome

Pregnancy / Humans / Mutation / Female / Prenatal / Clinical Sciences / Adult / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Gestational Age / Clinical Sciences / Adult / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Gestational Age

P05.20: Prenatal diagnosis of ductus venosus agenesis: a report of two cases

Prenatal Diagnosis

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