1. Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes. (January 2015) Authors: Okiro, Patricia; Wainwright, Helen; Spranger, Jürgen; Beighton, Peter Journal: Pediatric and developmental pathology Issue: Volume 18:Number 1(2015) Page Start: 40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. (25th October 2018) Authors: Chimusa, Emile R; Beighton, Peter; Kumuthini, Judit; Ramesar, Rajkumar S Journal: Human molecular genetics Issue: Volume 28:Number 7(2019) Page Start: 1053 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy. Issue 2 (8th January 2015) Authors: Shaboodien, Gasnat; Watkins, David A; Pillay, Komala; Beighton, Peter; Heckmann, Jeannine M; Mayosi, Bongani M Journal: Practical neurology Issue: Volume 15:Issue 2(2015) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B‐Related brachydactyly. Issue 6 (16th March 2015) Authors: Badura‐Stronka, Magdalena; Mróz, Dariusz; Beighton, Peter; Łukawiecki, Sebastian; Wicher, Katarzyna; Latos‐Bieleńska, Anna; Kozłowski, Kazimierz Journal: Birth defects research Issue: Volume 103:Issue 6(2015) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. Issue 11 (9th September 2020) Authors: Roberts, Lisa; Julius, Stephanie; Dawlat, Shrinav; Yildiz, Safiye; Rebello, George; Meldau, Surita; Pillay, Komala; Esterhuizen, Alina; Vorster, Alvera; Benefeld, Gameda; da Rocha, Jorge; Beighton, Peter; Sellars, Sean L.; Thandrayen, Kebashni; Pettifor, John M.; Ramesar, Raj S. Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The evolution of the nosology of osteogenesis imperfecta. Issue 1 (3rd November 2020) Authors: Chetty, Manogari; Roomaney, Imaan Amina; Beighton, Peter Journal: Clinical genetics Issue: Volume 99:Issue 1(2021) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Ultrasonic diagnosis of perinatal lethal hypophosphatasia. (August 2013) Authors: Muller, Linnie; Wainwright, Helen; Beighton, Peter Journal: Ultrasound Issue: Volume 21:Number 3(2013) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗