1. 14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. (30th November 2020) Authors: Steel, Edward; Hurst, Jane; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 40 Horizonal gaze palsy with progressive scoliosis secondary to ROBO3 gene variants associated with osteogenesis imperfecta type I. (23rd February 2023) Authors: Crowe, Belinda; Bowman, Richard; Löbel, Ulrike; Calder, Alistair; Gibson, Alexander; Allgrove, Jeremy; DeVile, Catherine Journal: Archives of disease in childhood Issue: Volume 108(2023)Supplement 1 Page Start: A15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. Issue 4 (October 2019) Authors: Menzies, Lara; Cullup, Tom; Calder, Alistair; Wilson, Louise; Faravelli, Francesca Journal: Clinical dysmorphology Issue: Volume 28:Issue 4(2019:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017) Authors: Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter. Issue 4 (1st October 2020) Authors: Davies, Gwyneth; Stanojevic, Sanja; Raywood, Emma; Duncan, Julie A.; Stocks, Janet; Lum, Sooky; Bush, Andrew; Viviani, Laura; Wade, Angie; Calder, Alistair; Owens, Catherine M.; Goubau, Christophe; Carr, Siobhán B.; Bossley, Cara J.; Pao, Caroline; Aurora, Paul Journal: European respiratory journal Issue: Volume 56:Issue 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. Issue 2 (April 2020) Authors: Steel, Edward; Hurst, Jane A; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise C Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings. Issue 5 (12th March 2016) Authors: Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton‐Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angu... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 170A, Number 5, May 2016. Issue 5 (14th April 2016) Authors: Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton‐Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angu... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia‐Strudwick type (SEMD‐S). (6th August 2015) Authors: Merrick, Blair; Calder, Alistair; Wakeling, Emma Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease. Issue 3 (29th July 2019) Authors: Jacob, Joseph; Owens, Catherine M.; Brody, Alan S.; Semple, Thomas; Watson, Tom A.; Calder, Alistair; Garcia-Peña, Pilar; Toma, Paolo; Devaraj, Anand; Walton, Henry; Moreno-Galdó, Antonio; Aurora, Paul; Rice, Alexandra; Vece, Timothy J.; Cunningham, Steve; Altmann, Andre; Wells, Athol U.; Nichols... Journal: ERJ open research Issue: Volume 5:Issue 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗