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Titolo Data di pubblicazione Autore(i) File
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 1993 M. Genuardi;C. Dionisi-Vici;G. Sabetta;M. Mignozzi;G. Rizzoni;G. Cotugno;M. E. Martini
Progressive dementia in a young patient with a homozygous deletion of the PrP gene. 1994 C. Masullo;M. Salvatore;G. Macchi;M. Genuardi;M. Pocchiari
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. 1994 F. Gurrieri;M. Genuardi;P. Chiurazzi;G. Gillessen-Kaesbach;G. Neri
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. 1994 M. Salvatore;M. Genuardi;R. Petraroli;C. Masullo;M. D'Alessandro;M. Pocchiari
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. 1994 S. W. Scherer;P. Poorkaj;T. Allen;J. Kim;D. Geshuri;M. Nunes;S. Soder;K. Stephens;R. A. Pagon;M. A. Patton; M.A: Berg;T. Donlon;H. Rivera;R.A. Pfeiffer;K. Naritomi;H. Hughes;M. Genuardi;F. Gurrieri;G. Neri;E. Lovrein;E. Magenis;L.-C. Tsui;J.P. Evans
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 1994 M. Genuardi;F. Calvieri;C. Tozzi;R. Coslovi;G. Neri
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? 1994 M. Genuardi;E. Silvestri;C. Tozzi
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 1994 U. Orth;F. Gurrieri;A. Behmel;M. Genuardi;M. Cremer;A. Gal;G. Neri
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. 1994 M. Genuardi;F. Gurrieri;G. Neri
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8. 1995 D. DeBrasi;M. Genuardi;A. D'Agostino;F. Calvieri;C. Tozzi;S. Varrone;G. Neri
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. 1995 G. Sorge; S. Ardito; M. Genuardi; V. Pavone; R. Rizzo; G. Conti; G. Neri; B. E. Katz; J. M. Opitz
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. 1995 M. Zollino; M. Genuardi; J. Bajer; A. Tornesello; S. Mastrangelo; G. Zampino; R. Mastrangelo; G. Neri
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. 1995 M. Genuardi; B. Bardoni; G. Floridia; P. Chiurazzi; G. Scarano; M. Zollino; N. Garcea; M. E. Martini-Neri; G. Neri
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia. 1995 M. C. Cox-Froncillo; M. Genuardi; J. Bajer; E. Livdi; G. Adorno; A. Venditti; M. Masi; P. Giudiceandrea; G. Neri; G. Papa
Oral-facial-skeletal syndromes. 1995 G. Neri; F. Gurrieri; M. Genuardi
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. 1995 F. Gurrieri; M. Cammarata; R. M. Avarello; M. Genuardi; M. G. Pomponi; G. Neri; L. Giuffrè
Malformation syndromes with kidney dysplasia. 1996 M. Genuardi;G. Scarano;C. Tozzi;M. Chinca;M. D. Monica;M. E. Martini-Neri;P. Picardi;G. Neri
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. 1996 P. Chiurazzi; G. Destro-Bisol; M. Genuardi; B. A. Oostra; G. Spedini; G. Neri
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 1996 F. Gurrieri; P. Prinos; D. Tackels; M. W. Kilpatrick; J. Allanson; M. Genuardi; A. Vuckov; L. Nanni; E. Sangiorgi; G. Garofalo; M. E. Nunes; G. Neri; C. Schwartz; P. Tsipouras
Telomerase activity in human laryngeal squamous cell carcinomas. 1996 S. Hohaus; S. Cavallo; A. Bellacosa; M. Genuardi; J. Galli; G. Cadoni; G. Almadori; L. Lauriola; S. Litwin; M. Maurizi; G. Neri
Mostrati risultati da 21 a 40 di 149
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