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Results 1 to 25 of 53

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SPECIFIC CELLULAR DEFECTS IN PATIENTS WITH FANCONI ANEMIAWEKSBERG R; BUCHWALD M; SARGENT P et al.1979; J. CELL. PHYSIOL.; USA; DA. 1979; VOL. 101; NO 2; PP. 311-323; BIBL. 2 P.Article

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndromeBARR, C. L; BEST, L; WEKSBERG, R et al.American journal of medical genetics. 2001, Vol 104, Num 2, pp 120-126, issn 0148-7299Article

Developmental biology : Frontiers for clinical genetics: Overgrowth syndromes and genomic imprinting : from mouse to manLI, M; SQUIRE, J. A; WEKSBERG, R et al.Clinical genetics. 1998, Vol 53, Num 3, pp 165-170, issn 0009-9163Article

Genomic imprinting in tumoursSQUIRE, J; WEKSBERG, R.Seminars in cancer biology. 1996, Vol 7, Num 1, pp 41-47, issn 1044-579XArticle

Patterns of dysmorphic features in schizophreniaSCUTT, L. E; CHOW, E. W. C; WEKSBERG, R et al.American journal of medical genetics. 2001, Vol 105, Num 8, pp 713-723, issn 0148-7299Article

Alström syndrome : further evidence for linkage to human chromosome 2p13COLLIN, G. B; MARSHALL, J. D; BOERKOEL, C. F et al.Human genetics. 1999, Vol 105, Num 5, pp 474-479, issn 0340-6717Article

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequentyly determines severity of diseaseRUTTLEDGE, M. H; ANDERMANN, A. A; MICHELS, V et al.American journal of human genetics. 1996, Vol 59, Num 2, pp 331-342, issn 0002-9297Article

Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20. Case reportROVET, J; KREKEWICH, K; PERLMAN, K et al.Developmental medicine and child neurology (Print). 1995, Vol 37, Num 7, pp 637-644, issn 0012-1622Article

Bridging markers defining the map position of X linked hypophosphataemic ricketsTHAKKER, R. V; READ, A. P; KIM, G. S et al.Journal of medical genetics. 1987, Vol 24, Num 12, pp 756-760, issn 0022-2593Article

Midtrimester amniocentesis: obstetric outcome and neonatal neurobehavioral statusFINEGAN, J.-A. K; QUARRINGTON, B. J; HUGHES, H. E et al.American journal of obstetrics and gynecology. 1984, Vol 150, Num 8, pp 989-997, issn 0002-9378Article

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding proteinHINEK, A; SMITH, A. C; CUTIONGCO, E. M et al.American journal of human genetics. 2000, Vol 66, Num 3, pp 859-872, issn 0002-9297Article

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndromeBRZUSTOWICZ, L. M; FARRELL, S; KHAN, M. B et al.American journal of human genetics. 1999, Vol 65, Num 3, pp 779-783, issn 0002-9297Article

Natural history of Alström syndrome in early childhoood : onset with dilated cardiomyopathyMICHAUD, J. L; HEON, E; WEKSBERG, R et al.The Journal of pediatrics. 1996, Vol 128, Num 2, pp 225-229, issn 0022-3476Article

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2ROBIN, N. H; FELDMAN, G. J; ALLANSON, J. E et al.Nature genetics. 1995, Vol 11, Num 4, pp 459-461, issn 1061-4036Article

Neurodevelopment of children exposed in utero to phenytoin and carbamazepine monotherapySCOLNIK, D; NULMAN, I; KOREN, G et al.JAMA, the journal of the American Medical Association. 1994, Vol 271, Num 10, pp 767-770, issn 0098-7484Article

Wilms tumor in a patient with Prader-Willi syndromeCOPPES, M. J; SOHL, H; TESHIMA, I. E et al.The Journal of pediatrics. 1993, Vol 122, Num 5, pp 730-733, issn 0022-3476, 1Article

Familial persistent Müllerian duct syndrome = Syndrome des vestiges mullériens persistants familialMOJTABA BEHESHTI; CHURCHILL, B. M; HARDY, B. E et al.The Journal of urology. 1984, Vol 131, Num 5, pp 968-969, issn 0022-5347Article

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell linesGRAFODATSKAYA, D; CHOUFANI, S; FERREIRA, J. C et al.Genomics (San Diego, Calif.). 2010, Vol 95, Num 2, pp 73-83, issn 0888-7543, 11 p.Article

Unbalanced placental expression of imprinted genes in human intrauterine growth restrictionMCMINN, J; WEL, M; SCHUPF, N et al.Placenta (Eastbourne). 2006, Vol 27, Num 6-7, pp 540-549, issn 0143-4004, 10 p.Article

Postmaturity in a genetic subtype of schizophreniaCHOW, E. W. C; HUSTED, J; WEKSBERG, R et al.Acta psychiatrica Scandinavica. 2003, Vol 108, Num 4, pp 260-268, issn 0001-690X, 9 p.Article

Schimke immunoosseous dysplasia complicated by Moyamoya phenomenonBOERKOEL, C. F; NOWACZYK, M. J. M; BLASER, S. I et al.American journal of medical genetics. 1998, Vol 78, Num 2, pp 118-122, issn 0148-7299Article

Absence of the greater sphenoid wing in neurofibromatosis type I : congenital or acquired : case report. CommentariesMACFARLANE, R; LEVIN, A. V; WEKSBERG, R et al.Neurosurgery. 1995, Vol 37, Num 1, pp 129-133, issn 0148-396XArticle

Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers : a new syndrome ?FEIGENBAUM, A; BERGERON, C; RICHARDSON, R et al.American journal of medical genetics. 1994, Vol 49, Num 1, pp 118-124, issn 0148-7299Article

Bloom syndrome: a single complementation group defines patients of diverse ethnic originWEKSBERG, R; SMITH, C; ANSON-CARTWRIGHT, L et al.American journal of human genetics. 1988, Vol 42, Num 6, pp 816-824, issn 0002-9297Article

A distinct microvascular endothelial gene expression profile in severe IUGR placentasDUNK, C. E; ROGGENSACK, A. M; COX, B et al.Placenta (Eastbourne). 2012, Vol 33, Num 4, pp 285-293, issn 0143-4004, 9 p.Article

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