Novel glucokinase mutation in a boy with maturity-onset diabetes of the young by Milenković Tatjana, Zdravković Dragan, Mitrović Katarina

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Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family by Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Ali Lashgari, Freidoon Farhadi

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A novel mutation of in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome by Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong

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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene by Seung Heo, Ja-Hyun Jang, Jeesuk Yu

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RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review by Shi Y, Qiao Z, Bi X, Zhang C, Fu J, Jia Y, Yang G

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A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report by Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani

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Aceruloplasminemia with novel mutation, with IgG4 related pachymeningitis – occam's razor or hickam's dictum? by Sai D Yaranagula, Neeharika L Mathukumalli, Sruthi Kola, Rukmini M Kandadai, Vanakuru Prasad, Rajesh Alugolu, Rupam Borgohain

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A Novel Mutation in a Patient with Wiskott-Aldrich Syndrome by Yurday Öncül, Arzu Akyay, İbrahim Tekedereli

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Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl by Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao

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Functional evaluation of a novel GLA causative mutation in Fabry disease by Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu

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Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even functio... by Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu

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A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea by Zhenbao Zhou, MD, Liying Zhao, MD, Yanqin Guo, MD, Jingyi Zhuang, MD, Nan Zhuo, MD, Han Chen, MD, Jieting Liu, MD, Libo Wang, MD

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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene by Eda Çelebi Bitkin, Huri Sema Aymelek

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Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta by Lei Xi, Shanshan Lv, Hao Zhang, Zhen‐Lin Zhang

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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency by Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan

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Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene by Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir

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A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report by Difei Lu, Aimei Dong, Junqing Zhang, Xiaohui Guo

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Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation by Longying Ye, Meina Liu, Lihong Yang, Mingshan Wang, Yaosheng Xie

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Successful management of Methemoglobinemia and G6PD deficiency in a patient posted for surgical excision of branchial cyst by V J Arun, Anuradha Deorukhkar, Aboobacker Mohamed Rafi, Deepak Charles, Rati Devendra, Susheela J Innah, Prabhakar Kedar

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Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism by Pembe Soylu Ustkoyuncu, Songül Gokay, Esra Eren, Durmus Dogan, Gokce Yıldız, Aysegul Yılmaz, Fatma Turkan Mutlu

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