• A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages
• Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence
• Anesthesia management of a newborn with Pena-Shokeir Syndrome
• Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review
• Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence
• Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
• Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth
• Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita
• Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts
• Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
• Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia
• Construction and evaluation of a prognosis prediction model for thyroid carcinoma based on lipid metabolism-related genes
• De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy
• Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
• Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin
• Disorders of neuronal migration: sonographic features
• Distorting facts into fads
• Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
• Facts and fads about food and nutrition
• Facts, fads and fancy in intravenous medication
• Fads and fallacies vs. facts in medico-dental thinking
• Fads and fancies in the treatment of arthritis
• Fads and fancies, thirty years of tuberculosis
• Fads and fancy in treatment of peptic ulcer
• Fads and foibles
• Fads, public opinion, and heart diseases
• Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review
• Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
• Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
• Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study
• Fetal akinesia deformation sequence: expanding the phenotypic spectrum
• Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management
• Foetal Akinesia Deformation Sequence: A Rare Lethal Entity
• Fundamentals, fads and fallacies in the carpal tunnel syndrome
• Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome
• Genetics of neuromuscular fetal akinesia in the genomics era
• Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences
• Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
• Identification of four TTN variants in three families with fetal akinesia deformation sequence
• Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence
• Intra-uterine death caused by fetal akinesia
• Kilroy was here: a reflection of history in some language fads
• Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
• MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
• Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
• Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
• Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
• Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
• Null variants in AGRN cause lethal fetal akinesia deformation sequence
• Otopathologic Findings of Pena-Shokeir Syndrome Type I
• Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family
• Pena-Shokeir syndrome: current management strategies and palliative care
• Pena-Shokeir type I syndrome: in utero sonographic appearance
• Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature
• Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review
• Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases
• Prenatal diagnosis of Pena-Shokeir syndrome type 1
• Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence
• Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
• SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy
• Targeted carrier screening for four recessive disorders: high detection rate within a founder population
• The hypothetical role of congenital hypotonia in the development of early coronoid hyperplasia
• The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence
• The pena-shoker syndrome type I: clinicopathological report of a recurrent case
• The spectacle habit; some fads and fallacies
• Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
• Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
• Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations