• A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages
• Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review
• Autistic-Like Traits in Pena-Shokeir Syndrome
• Fads and fallacies vs. facts in medico-dental thinking
• Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
• Lethal multiple pterygium syndrome: three consecutive cases in one family
• Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)
• Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
• Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings
• Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia
• Pena-shokeir type I syndrome with thymic and systemic lymphoid hyperplasia: report of an autopsy case
• Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature
• Prenatal diagnosis of Pena-Shokeir syndrome type 1
• Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation
• Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
• Targeted carrier screening for four recessive disorders: high detection rate within a founder population
• The pena-shoker syndrome type I: clinicopathological report of a recurrent case
• Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
• Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations