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A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese familyXIANG ZHOU; CANBIN ZHENG; XIAOLIN LIU et al.Bone (New York, NY). 2013, Vol 57, Num 1, pp 237-241, issn 8756-3282, 5 p.Article

A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidismERTL, Diana-Alexandra; STARY, Susanne; STREUBEL, Berthold et al.Bone (New York, NY). 2012, Vol 51, Num 3, pp 629-632, issn 8756-3282, 4 p.Article

Modelling and expression studies of two novel mutations causing factor V deficiencyDELEV, Daniel; PAVLOVA, Anna; HEINZ, Stefan et al.Thrombosis and haemostasis. 2008, Vol 100, Num 5, pp 766-772, issn 0340-6245, 7 p.Article

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplementSZABO, Gabriella P; OLAH, Anna V; KOZAK, Libor et al.European journal of pediatrics. 2010, Vol 169, Num 1, pp 121-123, issn 0340-6199, 3 p.Article

GLYCOGEN STORAGE DISEASE TYPE 1B: AN EARLY ONSET SEVERE PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION (IVS4) IN THE GLUCOSE 6-PHOSPHATE TRANSLOCASE (SLC37A4) GENE IN A TURKISH PATIENTOGUZ, M. M; AYKAN, E; YILMAZ, G et al.Genetic counseling. 2014, Vol 25, Num 4, pp 389-394, issn 1015-8146, 6 p.Article

Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature reviewGOGLIA, Umberto; VINANZI, Cinzia; ZUCCARELLO, Daniela et al.Fertility and sterility. 2011, Vol 96, Num 5, pp 1165-1169, issn 0015-0282, 5 p.Article

A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish familySALGADO, Josefa; ARAMENDIA, José M; GUTIERREZ, Cristina et al.Breast cancer research and treatment. 2010, Vol 121, Num 1, pp 219-220, issn 0167-6806, 2 p.Article

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC familiesKONECNY, Michal; VIZVARYOVA, Miriam; ZAVODNA, Katarina et al.Breast cancer research and treatment. 2010, Vol 119, Num 1, pp 233-237, issn 0167-6806, 5 p.Article

Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase GeneGUCEV, Zoran; TASIC, Velibor; POP-JORDANOVA, Nada et al.Indian journal of pediatrics. 2013, Vol 80, Num 2, pp 163-164, issn 0019-5456, 2 p.Article

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosisBAEK, Wonki; KOH, Seong-Ho; JIN SEOK PARK et al.Journal of the neurological sciences. 2011, Vol 306, Num 1-2, pp 157-159, issn 0022-510X, 3 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

PRKAR1A gene mutation in patients with cardiac myxomaMABUCHI, T; SHIMIZU, M; MABUCHI, H et al.International journal of cardiology. 2005, Vol 102, Num 2, pp 273-277, issn 0167-5273, 5 p.Article

Four novel FXI gene mutations in three factor XI-deficient patientsDE RAUCOURT, Emmanuelle; DE MAZANCOURT, Philippe; QUELIN, Florence et al.Blood coagulation & fibrinolysis. 2008, Vol 19, Num 3, pp 240-242, issn 0957-5235, 3 p.Article

Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutationLEE, Sun-Min; HEO, Yong-Seok; LEE, Eun-Yup et al.Blood coagulation & fibrinolysis. 2008, Vol 19, Num 1, pp 92-94, issn 0957-5235, 3 p.Article

A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patientRAMADAN, Khaled M; MCNULTY, Orla; ANDERSON, Julia A. M et al.Blood coagulation & fibrinolysis. 2006, Vol 17, Num 6, pp 499-502, issn 0957-5235, 4 p.Article

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-SaguenayHAGS, Rie; MIKI, Yasuo; TAKIYAMA, Yoshihisa et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2012, Vol 114, Num 6, pp 746-747, issn 0303-8467, 2 p.Article

A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from IndiaSACHIN JAIN; EDISON, Eunice S; VIKRAM MATHEWS et al.International journal of hematology. 2012, Vol 95, Num 5, pp 570-572, issn 0925-5710, 3 p.Article

Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutationKOYAMA, S; KAWANAMI, T; KUROKAWA, K et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2012, Vol 114, Num 6, pp 707-709, issn 0303-8467, 3 p.Article

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndromeKEUN WOOK BAE; BO EUN KIM; CHOI, Jin-Ho et al.European journal of pediatrics. 2011, Vol 170, Num 12, pp 1611-1615, issn 0340-6199, 5 p.Article

Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2SALGADO, Josefa; GUTIERREZ, Cristina; GIL, Carmen et al.Breast cancer research and treatment. 2010, Vol 123, Num 1, pp 291-293, issn 0167-6806, 3 p.Article

Identification of a novel BRCA1 nucleotide 4803delCC/ c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancerHANSEN, Thomas V. O; JØNSON, Lars; ALBRECHTSEN, Anders et al.Breast cancer research and treatment. 2010, Vol 124, Num 1, pp 259-264, issn 0167-6806, 6 p.Article

Estrogen receptor β gene mutations in Indian infertile menKHATTRI, A; PANDER, R. K; GUPTA, N. J et al.Molecular human reproduction. 2009, Vol 15, Num 7-8, pp 513-520, issn 1360-9947, 8 p.Article

Autosomal recessive ichthyosis with hypotrichosis syndrome : further delineation of the phenotypeAVRAHAMI, L; MAAS, S; PASMANIK-CHOR, M et al.Clinical genetics. 2008, Vol 74, Num 1, pp 47-53, issn 0009-9163, 7 p.Article

Prenatal diagnosis of muscle-eye-brain diseaseBALCI, Burcu; MORRIS-ROSENDAHL, Deborah J; CELEBI, Asli et al.Prenatal diagnosis. 2007, Vol 27, Num 1, pp 51-54, issn 0197-3851, 4 p.Article