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Thanatophoric Dysplasia Caused by Double Missense FGFR3 MutationsPANNIER, Stéphanie; MARTINOVIC, Jelena; HEUERTZ, Solange et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1296-1301, issn 1552-4825, 6 p.Article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeVAN HOUDT, Jeroen K. J; NOWAKOWSKA, Beata Anna; CASTORI, Marco et al.Nature genetics. 2012, Vol 44, Num 4, pp 445-449, issn 1061-4036, 5 p.Article

Arena Syndrome Is Caused by a Missense Mutation in PLP1STEVENSON, Roger E; TARPEY, Patrick; MAY, Melanie M et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 1081-1081, issn 1552-4825, 1 p.Article

Fibrinogen montreal : A novel missense mutation (Aα D496N) associated with hypofibrinogenaemiaSHEEN, Campbell R; BRENNAN, Stephen O; JABADO, Nada et al.Thrombosis and haemostasis. 2006, Vol 96, Num 2, pp 231-232, issn 0340-6245, 2 p.Article

A novel missense-mutation-related feature extraction scheme for 'driver' mutation identificationHUA TAN; JIGUANG BAO; XIAOBO ZHOU et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 22, pp 2948-2955, issn 1367-4803, 8 p.Article

Analyses of a novel L130F missense mutation in FOXC1ITO, Yoko A; FOOTZ, Tim K; MURPHY, Tara C et al.Archives of ophthalmology (1960). 2007, Vol 125, Num 1, pp 128-135, issn 0003-9950, 8 p.Article

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegansMASYUKOVA, Svetlana V; WINKELBAUER, Marlene E; WILLIAMS, Corey L et al.Human molecular genetics (Print). 2011, Vol 20, Num 15, pp 2942-2954, issn 0964-6906, 13 p.Article

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2VAN STEENSEL, Maurice A. M; VAN GEEL, Michel; PARREN, Lizelotte J. M. T et al.Experimental dermatology. 2008, Vol 17, Num 4, pp 362-365, issn 0906-6705, 4 p.Article

A novel 1247T missense mutation in the haptoglobin 2 β-chain decreases the expression of the protein and is associated with ahaptoglobinemiaTEYE, Kwesi; QUAYE, Isaac K. E; KODA, Yoshiro et al.Human genetics. 2004, Vol 114, Num 5, pp 499-502, issn 0340-6717, 4 p.Article

A missense mutation in Tbce causes progressive motor neuronopathy in miceMARTIN, Natalia; JAUBERT, Jean; GOUNON, Pierre et al.Nature genetics. 2002, Vol 32, Num 3, pp 443-447, issn 1061-4036, 5 p.Article

CME Neuroferritinopathy : Missense mutation in FTL causing early- onset bilateral pallidal involvementMACIEL, P; CRUZ, V. T; CONSTANTE, M et al.Neurology. 2005, Vol 65, Num 4, pp 603-605, issn 0028-3878, 3 p.Article

Identification of a SACS gene missense mutation in ARSACSOGAWA, T; TAKIYAMA, Y; SAKOE, K et al.Neurology. 2004, Vol 62, Num 1, pp 107-109, issn 0028-3878, 3 p.Article

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signalKAISER, Frank J; BREGA, Paola; RAFF, Michael L et al.European journal of human genetics. 2004, Vol 12, Num 2, pp 121-126, issn 1018-4813, 6 p.Article

A novel missense mutation D676N in the plasminogen gene causes loss of functional activityYAMAGUCHI, M; SUGIYAMA, S; NODA, H et al.Human heredity. 1997, Vol 47, Num 4, pp 234-236, issn 0001-5652Article

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics AnalysisIQBAL, Hina; SARFARAZ, Tayyba; ANJUM, Farida et al.Journal of Biomedicine and Biotechnology (Print). 2011, Vol 2011, issn 1110-7243, 304612.1-304612.11, 1Article

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patientsALI, Bassam R; HUIFANG XU; AKAWI, Nadia A et al.Human molecular genetics (Print). 2010, Vol 19, Num 11, pp 2239-2250, issn 0964-6906, 12 p.Article

Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancersGORLOV, Ivan P; GORLOVA, Olga Y; FRAZIER, Marsha L et al.American journal of human genetics. 2003, Vol 73, Num 5, pp 1157-1161, issn 0002-9297, 5 p.Article

Novel missense and truncating mutations in FUS/TLS in familial ALSWAIBEL, S; NEUMANN, M; RABE, M et al.Neurology. 2010, Vol 75, Num 9, pp 815-817, issn 0028-3878, 3 p.Article

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiencyVERRIJN STUART, A. A; OZISIK, G; DE VROEDE, M. A et al.The Journal of clinical endocrinology and metabolism. 2007, Vol 92, Num 3, pp 755-761, issn 0021-972X, 7 p.Article

Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2PETERS, Stefan.International journal of cardiology. 2014, Vol 173, Num 2, pp 317-318, issn 0167-5273, 2 p.Article

Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boyTAMAI, Masato; KAWANO, Takeshi; SAITO, Ryota et al.International journal of hematology. 2014, Vol 100, Num 4, pp 393-397, issn 0925-5710, 5 p.Article

Acute encephalopathy with a novel point mutation in the SCN2A geneKOBAYASHI, Katsuhiro; OHZONO, Hiroki; SHINOHARA, Mayu et al.Epilepsy research. 2012, Vol 102, Num 1-2, pp 109-112, issn 0920-1211, 4 p.Article

Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)POHLENZ, Joachim; PFARR, Nicole; KRÜGER, Silvia et al.Acta paediatrica (Oslo). 2006, Vol 95, Num 12, pp 1685-1687, issn 0803-5253, 3 p.Article

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneTONELLI, Alessandra; D'ANGELO, Maria Grazia; SALATI, Roberto et al.Journal of the neurological sciences. 2006, Vol 241, Num 1-2, pp 13-17, issn 0022-510X, 5 p.Article