1. 18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome. (December 2019) Authors: Carrasquillo, Jorge A.; Chen, Clara C.; Price, Susan; Whatley, Millie; Avila, Nilo A.; Pittaluga, Stefania; Jaffe, Elaine S.; Rao, V. Koneti Journal: Clinical nuclear medicine Issue: Volume 44:Number 12(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A collaborative care skills workshop for carers: Can it be delivered in 1 day?. (7th August 2017) Authors: Jenkins, Paul E.; Bues, Sonia; Cottrell, Julie; Hawkins, Joel; Pinder, Laura; Price, Susan; Stewart, Anne Journal: Clinical psychology & psychotherapy Issue: Volume 25:Number 1(2018) Page Start: 130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing. (3rd September 2015) Authors: Yilmaz, Rüstem; Beleza‐Meireles, Ana; Price, Susan; Oliveira, Renata; Kubisch, Christian; Clayton‐Smith, Jill; Szakszon, Katalin; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3006 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. Issue 9 (28th June 2013) Authors: Dias, Renuka P; Nightingale, Peter; Hardy, Carol; Kirby, Gail; Tee, Louise; Price, Susan; MacDonald, Fiona; Barrett, Timothy G; Maher, Eamonn R Journal: Journal of medical genetics Issue: Volume 50:Issue 9(2013) Page Start: 635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diversity policies meet the competency movement: towards reshaping law firm partnership models for the future. Issue 1 (2nd January 2018) Authors: Seuffert, Nan; Mundy, Trish; Price, Susan Journal: International journal of the legal profession Issue: Volume 25:Issue 1(2018) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Super scientists. (2020) Authors: Price, Susan Record Type: Book Extent: 1 online resource, illustrations View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. (3rd July 2020) Authors: Davis, Erica E; Balasubramanian, Ravikumar; Kupchinsky, Zachary A; Keefe, David L; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivo... Journal: Human molecular genetics Issue: Volume 29:Number 14(2020) Page Start: 2435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗