• <em>TRAF7</em> somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case
• A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder
• A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
• Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series
• Complications in the 2-Year Postoperative Period Following Pediatric Syndactyly Release
• Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
• Dermatoglyphics in kidney diseases: a review
• Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome
• Hyperinsulinemic Hypoglycemia Associated with a Ca(V)1.2 Variant with Mixed Gain- and Loss-of-Function Effects
• Hyperinsulinemic Hypoglycemia Associated with a Ca_V1.2 Variant with Mixed Gain- and Loss-of-Function Effects
• 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
• Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
• Pfeiffer Syndrome
• Pfeiffer Syndrome
• 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
• Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
• Reliability of the heart rate variability threshold during treadmill exercise
• SURGICAL TREATMENT OF CONGENITAL TYPE V THUMB SYNDACTYLY
• Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis
• Syndactyly type V
• The Ca(V)1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca(2+) channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome
• The Ca_V1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca²⁺ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome
• The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice