• <em>CEP55</em>-associated lethal fetal syndrome: a case report of a Chinese family
• A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G&gt;A (p.Arg266Gln) Pathogenic Variant in the <em>TP63</em> Gene
• A genetic rescue strategy for Timothy syndrome
• A Natural History Study of Timothy Syndrome
• A novel <em>GLI3</em> frameshift mutation in a Chinese pedigree with polydactyly: A case report
• A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review
• A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
• A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report
• About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations
• Advancement Flaps
• An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling
• An unruly case of functional 2:1 atrioventricular block
• Antisense oligonucleotide therapeutic approach for Timothy syndrome
• Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report
• Apert syndrome: craniofacial challenges and clinical implications
• ASO to treat Timothy syndrome
• Automated three-dimensional analysis of facial asymmetry in patients with syndromic coronal synostosis: A retrospective study
• Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
• Case report: A girl with witnessed sleep apnea
• Characterizing the Timing of Surgical Repair of Congenital Hand Differences in the United States
• Clinical and operative risk factors for complications after Apert hand syndactyly reconstruction
• Clinical and Radiological Features in Poland Syndrome: Report of 3 Cases and Review of Literature
• Common Pediatric Hand Anomalies
• Congenital nail abnormalities
• Consultations for Poland Syndrome: The Essentials for a Thoracic Surgeon
• Contemporary Management of the Upper Limb in Apert Syndrome: A Review
• Correction of Congenital Syndactyly of the Hand with Minimal Full-Thickness Skin Graft from the Weight-Bearing Midline Plantar Area
• Correction of symbrachydactyly: a systematic review of surgical options
• Cri-Du-Chat Syndrome - A Rare Case Report
• Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
• Decreasing predictable DNA off-target effects and narrowing editing windows of adenine base editors by fusing human Rad18 protein variant
• Detection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on pren
• Dorso Proximal Interphalangeal Island Flap
• Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review
• Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele
• Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study
• Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers
• Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome
• Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
• Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with <em>BCOR</em>-associated oculo-facio-cardio-dental (OFCD) syndrome
• Fractures of the fifth metacarpal neck treated by syndactyly: functional and quality of life outcomes of a series of 39 patients
• Fraser syndrome with limb reduction defect: a rare and unique anatomic variation
• Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G&gt;A (p.G406R) mutation
• Graftless Syndactyly Release
• Heavy metals and trace elements in maternal blood and prevalence of congenital limb abnormalities among newborns: the Japan Environment and Children's Study
• Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride
• International Cohort of Neonatal Timothy Syndrome
• Late management of amniotic bands syndrome with incomplete syndactyly: A case report of 4-year-old child
• Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report
• Long-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later
• Long-Term Outcome of Digital Defect Reconstruction using Cross-Finger Flaps
• Lower Extremity Polydactyly Does Not Disturb Finding One's Feet
• LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
• Making sense of Timothy syndrome with 3D human neuronal models
• Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome
• Megadactyly with syndactyly of the right toes, a rare case report
• Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation
• Non-syndromic phocomelia: A rare case report signifying prenatal screening
• Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-/syndactyly
• Optimal timing for plastic surgical procedures for common congenital anomalies: A review
• Optimizing Surgical Outcomes in Congenital Syndactyly: Evaluation of Flap and Graft Techniques in Older Pediatric Patients
• Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A&gt;G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasi
• Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study
• Pierre Robin sequence coexisting with ectopic kidney, bilateral developmental hip dysplasia in a child - A rare case report
• Plantar intermetatarsal perforator flap for first web skin-graftless syndactyly release: Anatomical study and clinical application
• Polybrachysyndactyly in all 4 extremities: Case report
• Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women
• Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report
• Reconstruction for Congenital Absence of the Fifth Metacarpal
• Reconstruction of a Pediatric Distal Phalanx Amputation With Stacked Integra Dermal Substitute: A Case Report
• Reconstruction of Total Hand Degloving Injury with Combined Free and Pedicled Flaps and Ilizarov Minifixator
• Refinement of Surgery for Postaxial Polysyndactyly of the Toes: Esthetic Outcome in Japanese Feet
• Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study
• Smith-Lemli-Opitz Syndrome
• Smith-Lemli-Opitz Syndrome with Biallelic c.1295A&gt;G (p.Tyr432Cys) Variant in the <em>DHCR7</em> Gene in a 73-Year-Old Woman: Report of the Oldest Patient
• Split-thickness Plantar Skin Graft for Foot Syndactyly
• Successful reverse total shoulder replacement in a patient with Apert syndrome
• Successful treatment of Giant keloid on the right toes using trepanation combined with superficial radiotherapy (SRT-100): a case report with literature review
• Surgical management of bilateral preaxial and postaxial polydactyly with syndactyly: A case report
• Surgical Management of Sirenomelia: A Case Study
• Syndactylized glabrous flaps for multiple finger palmar defects
• Syndactyly in a Newborn
• Syndactyly Reconstruction Technique Utilizing Skin Substitute
• Targeting RNA opens therapeutic avenues for Timothy syndrome
• The effect of breathing hypoxic gas (15% FIO₂ ) on physiological and behavioral outcomes during simulated driving in healthy subjects
• The effectiveness of time domain and nonlinear heart rate variability metrics in ultra-short time series
• The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background
• The novel application of syringe needle in recessive dystrophic epidermolysis bullosa syndactyly release surgery
• The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
• The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86
• Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation
• Toll-like receptor-2 induced inflammation causes local bone formation and activates canonical Wnt signaling
• Towards Quantifying Stress in Patients with a History of Myocardial Infarction: Validating ECG-Derived Patch Features
• Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling
• Unilateral Syndactyly, Hemihypertrophy, and Hyperpigmentation with Mosaic 2q35 Deletion
• Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers
• Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
• Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report
• Webplasty using an external fixator for complex syndactyly caused by Apert syndrome