Disease: Wildervanck syndrome
- <em>TBX5</em> variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects
- A Case Report of Thromboembolic Stroke in a Patient with Holt-Oram Syndrome
- A Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report
- A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome
- A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child
- Advances in genetic research on Non-syndromic congenital joint synostosis
- Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome
- Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings
- Correction of a deleterious TBX5 mutation in an induced pluripotent stem cell line (DHMi004-A-1) using a completely plasmid-free CRISPR/Cas 9 approach
- Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
- Epidemiology of Congenital Hand Differences at a Tertiary Hospital in Southern India - Establishment of a New Registry and Assessment Using Both the Swanson/IFSSH and the Oberg, Manske and Tonkin Classifications
- Findings in a patient with Wildervanck syndrome
- Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 g
- Holt-Oram Syndrome
- Holt-Oram Syndrome
- Holt-Oram syndrome
- Holt-Oram Syndrome With Atrial Septal Defect
- Holt-Oram Syndrome with Pulmonary Involvement-A Valuable Algorithm to Follow
- Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association
- Holt-Oram syndrome: a rare clinical image
- Holt-Oram Syndrome: An Incidental Diagnosis
- Human Genetics of Atrial Septal Defect
- Human Genetics of Hypoplastic Left Heart Syndrome
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
- Human Genetics of Ventricular Septal Defect
- Identification of a novel <em>TBX5</em> mutation in a Chinese family with rare symptoms of Holt-Oram syndrome
- Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation
- Long-term follow-up for the atypical radial longitudinal deficiency: A case report
- Preiser's Disease as a Consequence of Scaphoid Hypoplasia After Remote Index Finger Repositioning: A Case Report
- Radial Ray Anomaly with Associated Ventricular Septal Defect - Case Report with Review of Literature
- SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary
- Sensorineural Hearing Loss and Mitochondrial Apoptosis of Cochlear Spiral Ganglion Neurons in Fibroblast Growth Factor 13 Knockout Mice
- Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS)
- TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
- TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant
- The cochlear implantation in patients with syndromic deafness. Clinical examples
- The HOS1-PIF4/5 module controls callus formation in <em>Arabidopsis</em> leaf explants
- Type-I umbilical-systemic shunt with abnormal connection to azygos vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome
- Ultrasound-assisted spinal anaesthesia in a patient with Wildervanck syndrome and congenital abnormalities of the lumbar spine
- Umbilical systemic shunt (Type I) with abnormal connection into azygous vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome
- Wildervanck syndrome associated with cleft palate and short stature
- Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation
- Wildervanck syndrome: an uncommon cause of Duane syndrome
- Wildervanck syndrome: clinical case report
- Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?
- Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery
- Xq26.3 microdeletion in a male with Wildervanck Syndrome