Disease: Syndactyly- type v
- <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<sub>V</sub>1.2 Variant with Mixed Gain- and Loss-of-Function Effects
- Increased Ca<sub>V</sub>1.2 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
- 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<sub>V</sub>1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca<sup>2+</sup> 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