• Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis
• DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q)
• DK-phocomelia syndrome in a child with a long follow-up
• DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties
• Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
• Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome
• Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome
• Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?
• Syndromes, disorders and maternal risk factors associated with neural tube defects (VII)
• Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?
• VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community
• von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies
• Von-Voss-Cherstvoy syndrome (DK-Focomelia): description of the first case in Spain and a literature review