Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian SubcontinentBIJARNIA, Sunita; KOHLI, Sudha; RATNA DUA PURI et al.Indian journal of pediatrics. 2013, Vol 80, Num 1, pp 26-31, issn 0019-5456, 6 p.Article

Molecular characterization of the C-methyltransferase NovO of Streptomyces spheroides, a valuable enzyme for performing Friedel―Crafts alkylationTENGG, Martin; STECHER, Harald; REMLER, Peter et al.Journal of molecular catalysis. B, Enzymatic. 2012, Vol 84, pp 2-8, issn 1381-1177, 7 p.Conference Paper

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hairPASTERNACK, Sandra M; MURUGUSUNDRAM, Sundaram; EIGELSHOVEN, Sibylle et al.Archives of dermatological research (Print). 2009, Vol 301, Num 8, pp 621-624, issn 0340-3696, 4 p.Article

SHMTool : A webserver for comparative analysis of somatic hypermutation datasetsMACCARTHY, Thomas; ROA, Sergio; SCHARFF, Matthew D et al.DNA repair. 2009, Vol 8, Num 1, pp 137-141, issn 1568-7864, 5 p.Article

Eight novel mutations of ATP2C1 identified in 17 Chinese families with hailey-hailey diseaseFUREN ZHANG; XIAOXIAO YAN; DEKE JIANG et al.Dermatology (Basel). 2007, Vol 215, Num 4, pp 277-283, issn 1018-8665, 7 p.Article

Ligneous conjunctivitis : a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvementRODRIGUEZ-ARES, M. Teresa; ABDULKADER, Ihab; BLANCO, Ana et al.Virchows Archiv. 2007, Vol 451, Num 4, pp 815-821, issn 0945-6317, 7 p.Article

Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditariaYONG CUI; JUN WANG; SEN YANG et al.Archives of dermatological research (Print). 2005, Vol 296, Num 11, pp 543-545, issn 0340-3696, 3 p.Article

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's diseaseSEN YANG; SUN, Liang-Dan; ZHU, Yi-Yuan et al.Archives of dermatological research (Print). 2004, Vol 296, Num 1, pp 21-24, issn 0340-3696, 4 p.Article

Reliability of EGFR and KRAS mutation analysis on fine-needle aspiration washing in non-small cell lung cancerBOZZETTI, Cecilia; NALDI, Nadia; DE FILIPPO, Massimo et al.Lung cancer. 2013, Vol 80, Num 1, pp 35-38, issn 0169-5002, 4 p.Article

Whole genome and transcriptome amplification: practicable tools for sustainable tissue biobanking?TEICHMAN, Adriana Von; STORZ, Martina; DETTWILER, Susanne et al.Virchows Archiv. 2012, Vol 461, Num 5, pp 571-580, issn 0945-6317, 10 p.Article

Correlation of immunohistochemical staining p63 and TTF-1 with EGFR and K-ras mutational spectrum and diagnostic reproducibility in non small cell lung carcinomaTHUNNISSEN, Erik; BOERS, Evan; SMIT, Egbert F et al.Virchows Archiv. 2012, Vol 461, Num 6, pp 629-638, issn 0945-6317, 10 p.Article

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome PatientsOVUNC, Bugsu; ASHRAF, Shazia; VEGA-WARNER, Virginia et al.The Nephron journals. 2012, Vol 120, Num 3, issn 1660-8151, c139-c146Article

A De Novo Mutation of STK11 Gene in a Chinese Patient with Peutz-Jeghers SyndromeYING GAO; ZHANG, Fa-Ming; SHU HUANG et al.Digestive diseases and sciences. 2010, Vol 55, Num 4, pp 1032-1036, issn 0163-2116, 5 p.Article

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutationGRIBAA, Moez; YOUNES, Mohamed; BOUYACOUB, Yosra et al.Journal of bone and mineral metabolism (English ed.). 2010, Vol 28, Num 1, pp 111-115, issn 0914-8779, 5 p.Article

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsOBA-SHINJO, Sueli M; DA SILVA, Roseli; MUNOZ, Verônica et al.Journal of neurology. 2009, Vol 256, Num 11, pp 1881-1890, issn 0340-5354, 10 p.Article

Absence of gene mutations in KIT-positive thymic epithelial tumorsTSUCHIDA, Masanori; UMEZU, Hajime; HASHIMOTO, Takehisa et al.Lung cancer. 2008, Vol 62, Num 3, pp 321-325, issn 0169-5002, 5 p.Article

BRCA1 and BTCA2 germline mutation analysis in the indonesian populationPURNOMOSARI, Dewajani; PALS, Gerard; WAHYONO, Artanto et al.Breast cancer research and treatment. 2007, Vol 106, Num 2, pp 297-304, issn 0167-6806, 8 p.Article

Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in ChinaREN, Yun-Qing; MIN GAO; SHEN, Yu-Jun et al.Archives of dermatological research (Print). 2006, Vol 298, Num 2, pp 58-63, issn 0340-3696, 6 p.Article

Severe neurological impairment in hereditary methaemoglobinaemia type 2TOELLE, Sandra P; BOLTSHAUSER, Eugen; MÖSSNER, Ekkehard et al.European journal of pediatrics. 2004, Vol 163, Num 4-5, pp 207-209, issn 0340-6199, 3 p.Article

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patientsTAGAWA, Kazuhiko; OGAWA, Megumu; KAWABE, Kiyokazu et al.Journal of the neurological sciences. 2003, Vol 211, Num 1-2, pp 23-28, issn 0022-510X, 6 p.Article

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screeningGEORGIOU, Theodoros; HO, Gladys; VOGAZIANOS, Marios et al.Clinical biochemistry. 2012, Vol 45, Num 7-8, pp 588-592, issn 0009-9120, 5 p.Article

G80S-linked ferroportin disease: Classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defectiveMCDONALD, Cameron J; WALLACE, Daniel F; OSTINI, Lesa et al.Journal of hepatology. 2011, Vol 54, Num 3, pp 538-544, issn 0168-8278, 7 p.Article

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegiaMAGARIELLO, Angela; MUGLIA, Maria; GAMBARDELLA, Antonio et al.Journal of the neurological sciences. 2010, Vol 288, Num 1-2, pp 96-100, issn 0022-510X, 5 p.Article

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A geneCUENCA-LEON, Ester; BANCHS, Isabel; CORMAND, Bru et al.Journal of the neurological sciences. 2009, Vol 280, Num 1-2, pp 10-14, issn 0022-510X, 5 p.Article

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease : identification of six novel allelesZAMPIERI, Stefania; FILOCAMO, Mirella; DARDIS, Andrea et al.Neurogenetics (Oxford. Print). 2009, Vol 10, Num 1, pp 49-58, issn 1364-6745, 10 p.Article