1. A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity. Issue 12 (23rd September 2013) Authors: Invernizzi, Federica; Tigano, Marco; Dallabona, Cristina; Donnini, Claudia; Ferrero, Ileana; Cremonte, Maurizio; Ghezzi, Daniele; Lamperti, Costanza; Zeviani, Massimo Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases. Issue 12 (18th October 2013) Authors: Neveling, Kornelia; Feenstra, Ilse; Gilissen, Christian; Hoefsloot, Lies H.; Kamsteeg, Erik‐Jan; Mensenkamp, Arjen R.; Rodenburg, Richard J. T.; Yntema, Helger G.; Spruijt, Liesbeth; Vermeer, Sascha; Rinne, Tuula; van, Koen L.; Bodmer, Danielle; Lugtenberg, Dorien; de, Rick; Buijsman, Wendy; Derk... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Short‐Read Multiplex Sequencing Method for Reliable, Cost‐Effective and High‐Throughput Genotyping in Large‐Scale Studies. Issue 12 (7th October 2013) Authors: Cao, Hongzhi; Wang, Yu; Zhang, Wei; Chai, Xianghua; Zhang, Xiandong; Chen, Shiping; Yang, Fan; Zhang, Caifen; Guo, Yulai; Liu, Ying; Tang, Zhoubiao; Chen, Caifen; Xue, Yaxin; Zhen, Hefu; Xu, Yinyin; Rao, Bin; Liu, Tao; Zhao, Meiru; Zhang, Wenwei; Li, Yingrui Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1715 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Systematic Large‐scale Phenotypic Analysis of de novo and Inherited Copy Number Variation. Issue 12 (December 2013) Authors: Robinson, Peter N. Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations. Issue 12 (16th October 2013) Authors: van der, K. Joeri; Dhekne, Herschel S.; Swertz, Morris A.; Sirigu, Serena; Ropars, Virginie; Vinke, Petra C.; Rengaw, Trebor; van den, Peter C.; Rings, Edmond H. H. M.; Houdusse, Anne; van, Sven C. D. Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Significance of De Novo and Inherited Copy‐Number Variation. Issue 12 (10th October 2013) Authors: Vulto‐van Silfhout, Anneke T.; Hehir‐Kwa, Jayne Y.; van, Bregje W.M.; Schuurs‐Hoeijmakers, Janneke H.M.; Meader, Stephen; Hellebrekers, Claudia J.M.; Thoonen, Ilse J.M.; de, Arjan P.M.; Brunner, Han G.; Webber, Caleb; Pfundt, Rolph; de, Nicole; de, Bert B.A. Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities. Issue 12 (18th September 2013) Authors: IJspeert, Hanna; Warris, Adilia; van der, Michiel; Reisli, Ismail; Keles, Sevgi; Chishimba, Sandra; van, Jacques J.M.; van, Dik C.; van der, Mirjam Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Congenital Heart Defects in Patients with Deletions Upstream of SOX9. Issue 12 (18th October 2013) Authors: Sanchez‐Castro, Marta; Gordon, Christopher T.; Petit, Florence; Nord, Alex S.; Callier, Patrick; Andrieux, Joris; Guérin, Patrice; Pichon, Olivier; David, Albert; Abadie, Véronique; Bonnet, Damien; Visel, Axel; Pennacchio, Len A.; Amiel, Jeanne; Lyonnet, Stanislas; Le Caignec, Cédric Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy. Issue 12 (15th October 2013) Authors: Kodera, Hirofumi; Nakamura, Kazuyuki; Osaka, Hitoshi; Maegaki, Yoshihiro; Haginoya, Kazuhiro; Mizumoto, Shuji; Kato, Mitsuhiro; Okamoto, Nobuhiko; Iai, Mizue; Kondo, Yukiko; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Hayasaka, Kiyoshi; Sugahara, Kazuyuki; Yuasa, ... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles. Issue 12 (7th October 2013) Authors: Osorio, Ana; Bogliolo, Massimo; Fernández, Victoria; Barroso, Alicia; de la, Miguel; Caldés, Trinidad; Lasa, Adriana; Ramón y Cajal, Teresa; Santamariña, Marta; Vega, Ana; Quiles, Francisco; Lázaro, Conxi; Díez, Orland; Fernández, Daniel; González‐Sarmiento, Rogelio; Durán, Mercedes; Piqueras, Jo... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗