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Results 1 to 25 of 6866

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A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)SPRUIJT, Liesbeth; VERDYCK, Pieter; VAN HUL, Wim et al.American journal of medical genetics. 2005, Vol 139A, Num 1, pp 45-47, issn 0148-7299, 3 p.Article

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patientsDOUDNEY, K; MOORE, G. E; STANIER, P et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 90-92, issn 0148-7299, 3 p.Article

Association of partial trisomy 9p and the Dandy-Walker malformationCHEN, Chih-Ping; SHIH, Jin-Chung.American journal of medical genetics. 2005, Vol 132A, Num 1, pp 111-112, issn 0148-7299, 2 p.Article

5-HT1A polymorphism and self-transcendence in mood disordersLORENZI, Cristina; SERRETTI, Alessandro; MANDELLI, Laura et al.American journal of medical genetics. 2005, Vol 137B, Num 1, pp 33-35, issn 0148-7299, 3 p.Article

A 72-year-old danish puzzle resolved : Comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansionsKJAER, Klaus W; HANSEN, Lars; EIBERG, Hans et al.American journal of medical genetics. 2005, Vol 138A, Num 4, pp 328-339, issn 0148-7299, 12 p.Article

A disorder resembling pseudoachondroplasia but without COMP mutationSPRANGER, J. W; ZABEL, B; KENNEDY, J et al.American journal of medical genetics. 2005, Vol 132A, Num 1, pp 20-24, issn 0148-7299, 5 p.Article

A family study of early-onset obsessive-compulsive disorderDO ROSARIO-CAMPOS, Maria Conceicao; LECKMAN, James F; CURI, Mariana et al.American journal of medical genetics. 2005, Vol 136B, Num 1, pp 92-97, issn 0148-7299, 6 p.Article

A family study of obsessive-compulsive disorder with pediatric probandsHANNA, Gregory L; HIMLE, Joseph A; CURTIS, George C et al.American journal of medical genetics. 2005, Vol 134B, Num 1, pp 13-19, issn 0148-7299, 7 p.Article

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndromeOUNAP, Katrin; ILUS, Tiiu; BARTSCH, Oliver et al.American journal of medical genetics. 2005, Vol 134A, Num 4, pp 434-438, issn 0148-7299, 5 p.Article

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathySENECA, Sara; GOEMANS, Nathalie; VAN COSTER, Rudy et al.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 170-175, issn 0148-7299, 6 p.Article

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?KANTAPUTRA, Piranit N; TANPAIBOON, Pranoot.American journal of medical genetics. 2005, Vol 132A, Num 1, pp 63-67, issn 0148-7299, 5 p.Article

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactylyVITIELLO, C; D'ADAMO, P; GENTILE, F et al.American journal of medical genetics. 2005, Vol 133A, Num 1, pp 58-60, issn 0148-7299, 3 p.Article

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathyTEKIN, Mustafa; AKCAYOZ, Duygu; INCESULU, Armagan et al.American journal of medical genetics. 2005, Vol 138A, Num 1, pp 6-10, issn 0148-7299, 5 p.Article

A novel syndrome resembling Desbuquois dysplasiaALI AL KAISSI; NESSIB, N; GHACHEM, M. B et al.American journal of medical genetics. 2005, Vol 132A, Num 1, pp 68-75, issn 0148-7299, 8 p.Article

A48G polymorphism in the D1 receptor genes associated with bipolar I disorderSEVERINO, Giovanni; CONGIU, Donatella; SERRELI, Claudia et al.American journal of medical genetics. 2005, Vol 134B, Num 1, pp 37-38, issn 0148-7299, 2 p.Article

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome : Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63SLAVOTINEK, Anne M; TANAKA, June; WINDER, Alison et al.American journal of medical genetics. 2005, Vol 138A, Num 2, pp 146-149, issn 0148-7299, 4 p.Article

Analysis of NF1 transcriptional regulatory elementsTSZ KIN LEE; FRIEDMAN, J. M.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 130-135, issn 0148-7299, 6 p.Article

Analysis of the SREBF2 gene as a genetic risk factor for vascular dementiaKIM, Younyoung; YU JIN NAM; LEE, Chaeyoung et al.American journal of medical genetics. 2005, Vol 139B, Num 1, pp 19-22, issn 0148-7299, 4 p.Article

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasiaBONIOLI, Eugenio; HENNEKAM, Raoul C; SPENA, Gianantonio et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 202-205, issn 0148-7299, 4 p.Article

Are the betaine-homHoc an methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?HUIPING ZHU; CURRY, Stacey; SHU WEN et al.American journal of medical genetics. 2005, Vol 135A, Num 3, pp 274-277, issn 0148-7299, 4 p.Article

Association analysis of monoamine genes with measures of depression and anxiety in a selected community sample of siblingsNASH, M. W; SUGDEN, K; HUEZO-DIAZ, P et al.American journal of medical genetics. 2005, Vol 135B, Num 1, pp 33-37, issn 0148-7299, 5 p.Article

Association between the DRD2 A1 allele and opium addiction in the Iranian populationMARIA SHAHMORADGOLI NAJAFABADI; OHADI, Mina; MOHAMMAD TAGHI JOGHATAIE et al.American journal of medical genetics. 2005, Vol 134B, Num 1, pp 39-41, issn 0148-7299, 3 p.Article

Association study of neurotrophic tyrosine kinase receptor type 2 (NTRK2) and childhood-onset mood disordersADAMS, Jennifer H; WIGG, Karen G; BARR, Cathy L et al.American journal of medical genetics. 2005, Vol 132B, Num 1, pp 90-95, issn 0148-7299, 6 p.Article

Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindredsSTORM, Andrea L; JOHNSON, Jason M; LAMMER, Edward et al.American journal of medical genetics. 2005, Vol 138A, Num 2, pp 141-145, issn 0148-7299, 5 p.Article

Autosomal dominant microtia and ocular coloboma : New syndrome or an extension of the oculo-auriculo-vertebral spectrum?BECK, Anita E; HUDGINS, Louanne; HOYME, H. Eugene et al.American journal of medical genetics. 2005, Vol 134A, Num 4, pp 359-362, issn 0148-7299, 4 p.Article

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