Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
Marchionni E et al.
American Journal of Medical Genetics. Part A, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Clinical genome sequencing in an unbiased pediatric cohort.
Thiffault I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
Ahmed AA et al.
American Journal of Medical Genetics. Part A, 2018
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