1. Cover Image, Volume 39, Issue 3. Issue 3 (8th February 2018) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Issue 4 (6th March 2014) Authors: Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel‐Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold‐Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Çiğdem Seher; Kılıç, E... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Issue 4 (29th March 2017) Authors: Salpietro, Vincenzo; Lin, Weichun; Vedove, Andrea Delle; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S.; Pitt, Matthew; Bello, Oscar D.; Rothman, James E.; Basel‐Vanagaite, Lina; Hubshman... Journal: Annals of neurology Issue: Volume 81:Issue 4(2017) Page Start: 597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. Issue 1 (21st November 2017) Authors: Yilmaz, Rüstem; Szakszon, Katalin; Altmann, Anna; Altunoglu, Umut; Senturk, Leyli; McGuire, Marianne; Calabrese, Olga; Madan‐Khetarpal, Suneeta; Basel‐Vanagaite, Lina; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013) Authors: Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy. Issue 3 (26th December 2017) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗