Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Malformations of cortical development: Fetal imaging and genetics.
Wang LL et al.
Molecular Genetics & Genomic Medicine, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.
Li M et al.
The Journal of Obstetrics and Gynaecology Research, 2022
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Chan OYM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
Yoshioka M et al.
Brain & Development, 2008
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation.
Arora V et al.
Autopsy & Case Reports, 0