Prenatal diagnosis of genetic disease by chorionic villi sampling

Preoperative joint line convergence angle correction is a key factor in optimising accuracy in varus knee correction osteotomy.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA·2022

MECHANISMS OF NONDISJUNCTION AND IMPLICATIONS FOR TESTING ANEUGENS.

Biologisches Zentralblatt·2018

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Cytogenetic and genome research·2013

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

Clinical genetics·2013

A family with an inverted tandem duplication 5q22.1q23.2.

Cytogenetic and genome research·2012

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Clinical genetics·2012

Genetic Landscape of Photoparoxysmal Response in Epilepsy.

Indian journal of pediatrics·2026

Urea / Albumin and CRP / Albumin Ratios as Predictors of Outcomes in Pediatric Sepsis - A Comparative Analysis of Mortality Prediction Using the PIM-3 Score.

Indian journal of pediatrics·2026

Pubertal Growth Patterns According to Sexual Maturity Rating in Indian Children: Clinical Implications for Growth Assessment.

Indian journal of pediatrics·2026

Clinical Predictors of High-Flow Nasal Cannula Failure in Children with Acute Respiratory Illness: A Single-Center Experience.

Indian journal of pediatrics·2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Related Experiment Videos

Prenatal diagnosis of genetic disease by chorionic villi sampling

Related Concept Videos

Preoperative joint line convergence angle correction is a key factor in optimising accuracy in varus knee correction osteotomy.

MECHANISMS OF NONDISJUNCTION AND IMPLICATIONS FOR TESTING ANEUGENS.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

A family with an inverted tandem duplication 5q22.1q23.2.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Genetic Landscape of Photoparoxysmal Response in Epilepsy.

Urea / Albumin and CRP / Albumin Ratios as Predictors of Outcomes in Pediatric Sepsis - A Comparative Analysis of Mortality Prediction Using the PIM-3 Score.

Pubertal Growth Patterns According to Sexual Maturity Rating in Indian Children: Clinical Implications for Growth Assessment.

Clinical Predictors of High-Flow Nasal Cannula Failure in Children with Acute Respiratory Illness: A Single-Center Experience.

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Related Experiment Videos

Prenatal diagnosis of genetic disease by chorionic villi sampling

Related Concept Videos

Related Articles