1. A Reappraisal of Circulating Fetal Cell Noninvasive Prenatal Testing. Issue 6 (June 2019) Authors: Rezaei, Meysam; Winter, Marnie; Zander-Fox, Deirdre; Whitehead, Clare; Liebelt, Jan; Warkiani, Majid Ebrahimi; Hardy, Tristan; Thierry, Benjamin Journal: Trends in biotechnology Issue: Volume 37:Issue 6(2019) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022) Authors: Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher... Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012) Authors: Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su... Journal: American journal of medical genetics Issue: Volume 162:Issue 1(2013) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of Malan syndrome. Issue 9 (25th June 2018) Authors: Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants. Issue 2 (24th November 2020) Authors: Souzeau, Emmanuelle; Siggs, Owen M.; Pasutto, Francesca; Knight, Lachlan S. W.; Perez‐Jurado, Luis A.; McGregor, Lesley; Le Blanc, Shannon; Barnett, Christopher P.; Liebelt, Jan; Craig, Jamie E. Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 434 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Low-Frequency Stimulation of Silent Nociceptors Induces Secondary Mechanical Hyperalgesia in Human Skin. (1st September 2018) Authors: Sauerstein, Katja; Liebelt, Jan; Namer, Barbara; Schmidt, Roland; Rukwied, Roman; Schmelz, Martin Journal: Neuroscience Issue: Volume 387(2018) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014) Authors: Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie‐Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva‐Lena; Liebelt, Jan; Keller, Klaus‐Michael; Bert... Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants. Issue 11 (November 2014) Authors: Gardner, Jessica C.; Liew, Gerald; Quan, Ying‐Hua; Ermetal, Burcu; Ueyama, Hisao; Davidson, Alice E.; Schwarz, Nele; Kanuga, Naheed; Chana, Ravinder; Maher, Eamonn R.; Webster, Andrew R.; Holder, Graham E.; Robson, Anthony G.; Cheetham, Michael E.; Liebelt, Jan; Ruddle, Jonathan B.; Moore, Anthon... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗