• <em>TRAF7</em> somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case
• 1.7 cm elongated Achilles tendon did not alter walking gait kinematics 4.5 years after non-surgical treatment
• A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant
• A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2
• A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
• A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review
• A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
• A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
• A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly
• Accumulation of versican facilitates wound healing: Implication of its initial ADAMTS-cleavage site
• ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome
• Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly
• An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children
• An Evolution of the Surgical Management of Synpolydactyly: A Case Series of 21 Hands
• Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans
• Anti-cancer Properties of Potential Probiotics and Their Cell-free Supernatants for the Prevention of Colorectal Cancer: an In Vitro Study
• Antigenicity and receptor affinity of SARS-CoV-2 BA.2.86 spike
• Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement
• Apert Syndrome Type III Hand: Prevalence and Outcomes
• Association of cardiac autonomic modulation with different intensities of physical activity in a small Brazilian inner city: A gender analysis
• Associations Between Heart Rate Variability-Derived Indexes and Training Load: Repeated Measures Correlation Approach Contribution
• Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages
• Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
• Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family
• Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients
• Case report: A girl with witnessed sleep apnea
• Central Coalition Osteotomy of Phalangeal Synostoses in the Management of the Type III Apert Hand
• Classification of Middle Phalangeal Postaxial Polysyndactyly Based on Intraoperative Arthrography Is Useful for Surgical Decision-making in Children Younger Than 2 Years
• Clinical and genetic approach in the characterization of newborns with anorectal malformation
• Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
• Clinical characteristics of 170 cases of macrodactyly
• Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly
• Clinical manifestations and treatment of ulnar club hand
• Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder
• Combined genome-wide association study and epistasis analysis reveal multifaceted genetic architectures of plant height in Asian cultivated rice
• Complex craniosynostosis in the context of Carpenter's syndrome
• Congenital dyserythropoietic anaemia type I with nails and bone abnormalities
• Correlation among Poincare plot and traditional heart rate variability indices in adults with different risk levels of metabolic syndrome: a cross-sectional approach from Southern India
• Deciphering the network of cholesterol biosynthesis in Paris polyphylla laid a base for efficient diosgenin production in plant chassis
• Diagnosis and treatment of thumb polydactyly with symphalangism in children
• Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study
• Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study
• Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers
• Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study
• Epidemiology of Congenital Upper-Limb Anomalies in Southern Taiwan Based on the Updated Oberg, Manske, and Tonkin Classification: A Series of 1,335 Anomalies in 1,188 Patients
• Evaluation of cardiac autonomic function and low-grade inflammation in children with obesity living in the Northeast Brazilian region
• Excessive osteoclast activation by osteoblast paracrine factor RANKL is a major cause of the abnormal long bone phenotype in Apert syndrome model mice
• Factors important in the correct evaluation of oral high-risk lesions during the telehealth era
• Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome
• Feingold syndrome type 2 in a patient from China
• Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
• Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice
• Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation
• Heart rate variability at rest and in response to stress: Comparative study between hemodialysis and peritoneal dialysis patients
• High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8
• HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
• Identification of broad, potent antibodies to functionally constrained regions of SARS-CoV-2 spike following a breakthrough infection
• Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride
• Impaired vagal adaptation to an exercise task in women with gestational diabetes mellitus versus women with uncomplicated pregnancies
• In vivo measurements of kidney glomerular number and size in healthy and Os^/+ mice using MRI
• Increased Ca(V)1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
• Increased Ca_V1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
• Interdigitating Rectangular Flaps and Dorsal Pentagonal Island Flap for Syndactyly Release
• Longitudinal outcomes for educational placement and quality of life in a prospectively recruited multinational cohort of children with cochlear implants
• LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17
• LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
• Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity
• Maldevelopment of the submandibular gland in a mouse model of apert syndrome
• Modified Le Fort III osteotomy: A simple solution to severe midfacial hypoplasia
• Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation
• Muscle metaboreflex activation during hypercapnia modifies nonlinear heart rhythm dynamics, increasing the complexity of the sinus node autonomic regulation in humans
• Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep
• Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
• Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
• ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE)
• Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study
• Phenotypic variability of syndromic craniosynostosis caused by c.833G &gt; T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family
• Physicochemical characterization of the recombinant lectin scytovirin and microbicidal activity of the SD1 domain produced in rice against HIV-1
• Postaxial polydactyly of the hand in Japanese patients: Case series reports
• Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management
• Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and beta-cell death in streptozotocin-induced type 1 diabetic mice
• Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice
• Relationship between the number of comorbidities, quality of life, and cardiac autonomic modulation in patients with coronary disease: a cross-sectional study
• Reliability of the heart rate variability threshold during treadmill exercise
• Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association
• Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
• Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review
• Ser252Trp mutation in fibroblast growth factor receptor 2 promotes branching morphogenesis in mouse salivary glands
• The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study
• The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal
• The Oberg, Manske, and Tonkin Classification of Congenital Upper Limb Anomalies: A Consensus Decision-Making Study for Difficult or Unclassifiable Cases
• The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
• The role of RIPK4 in epidermis physiology
• Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand
• Upper extremity anomalies in children with femoral and fibular deficiency
• Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department
• Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
• Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities
• Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
• Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports