Approaches to the prenatal diagnosis of the Prader-Willi syndrome

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics·2016

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

European journal of medical genetics·2010

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Journal of medical genetics·2008

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Clinical and experimental immunology·2008

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Clinical genetics·2007

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Journal of medical genetics·2007

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Human genetics·2026

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Human genetics·2026

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Human genetics·2026

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Human genetics·2026

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Human genetics·2026

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Human genetics·2026

Cardiometabolic Risk Factors, Obesity Phenotypes, and Novel Anthropometric Indices in Patients With Acute Coronary Syndrome: A Hospital-Based Case-Control Study in Central India.

Cureus·2026

Bedside flexible bronchoscopy in the neonatal intensive care unit: Current evidence, clinical applications and future directions.

Respiratory medicine·2026

Decreased function of fatty acid desaturase 1 is associated with placental foetal vascular malperfusion and highlights the key role of the maternal-foetal interface.

EBioMedicine·2026

MRI-based correlation of cry acoustic parameters and brain structural development in preterm infants.

Acta psychologica·2026

Determinants of low birth weight among newborns in selected public hospitals in Southwest Ethiopia: a multi-center unmatched case-control study.

Sexual & reproductive healthcare : official journal of the Swedish Association of Midwives·2026

Haplotype structure and functional genotype-phenotype interactions of PON1 (L55M/Q192R) variants in Egyptian children with nephrotic syndrome.

Molecular biology reports·2026

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Approaches to the prenatal diagnosis of the Prader-Willi syndrome

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Cardiometabolic Risk Factors, Obesity Phenotypes, and Novel Anthropometric Indices in Patients With Acute Coronary Syndrome: A Hospital-Based Case-Control Study in Central India.

Bedside flexible bronchoscopy in the neonatal intensive care unit: Current evidence, clinical applications and future directions.

Decreased function of fatty acid desaturase 1 is associated with placental foetal vascular malperfusion and highlights the key role of the maternal-foetal interface.

MRI-based correlation of cry acoustic parameters and brain structural development in preterm infants.

Determinants of low birth weight among newborns in selected public hospitals in Southwest Ethiopia: a multi-center unmatched case-control study.

Haplotype structure and functional genotype-phenotype interactions of PON1 (L55M/Q192R) variants in Egyptian children with nephrotic syndrome.

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Approaches to the prenatal diagnosis of the Prader-Willi syndrome

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