• A comprehensive review of the genetic basis of cleft lip and palate
• A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
• A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders
• An update on the aetiology of orofacial clefts
• Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
• Escobar syndrome mimicing congenital patellar syndrome
• Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria
• Lethal multiple pterygium syndrome
• Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype?
• Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
• Proximal Dominant Hereditary Motor and Sensory Neuropathy with <em>TFG</em> Mutation: First Case Report from India
• Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
• Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome
• The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility
• The lethal multiple pterygium syndrome: a nosological approach
• The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion
• Zebrafish Models of Autosomal Dominant Ataxias