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1. Zdebska, E; Musielak, M; Jaeken, J; Koscielak, J
   Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated
   PROTEOMICS
   
   E. Zdebska et al., "Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated", PROTEOMICS, 1(2), 2001, pp. 269-274
2. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
   The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
   JOURNAL OF HUMAN GENETICS
   
   S. Vuillaumier-Barrot et al., "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic", J HUM GENET, 46(9), 2001, pp. 547-548
3. Ferens-Sieczkowska, M; Olczak, M
   Carbohydrate structures of haptoglobin in sera of healthy people and a patient with congenital disorder of glycosylation
   ZEITSCHRIFT FUR NATURFORSCHUNG C-A JOURNAL OF BIOSCIENCES
   
   M. Ferens-Sieczkowska e M. Olczak, "Carbohydrate structures of haptoglobin in sera of healthy people and a patient with congenital disorder of glycosylation", Z NATURFO C, 56(1-2), 2001, pp. 122-131
4. Meissner, T; Rabl, W; Mohnike, K; Scholl, S; Santer, R; Mayatepek, E
   Hyperinsulinism in syndromal disorders
   ACTA PAEDIATRICA
   
   T. Meissner et al., "Hyperinsulinism in syndromal disorders", ACT PAEDIAT, 90(8), 2001, pp. 856-859
5. Sergi, C; Poeschl, J; Graf, M; Linderkamp, O
   Restrictive dermopathy: Case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes
   AMERICAN JOURNAL OF PERINATOLOGY
   
   C. Sergi et al., "Restrictive dermopathy: Case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes", AM J PERIN, 18(1), 2001, pp. 39-47
6. Gerardy-Schahn, R; Oelmann, S; Bakker, H
   Nucleotide sugar transporters: Biological and functional aspects
   BIOCHIMIE
   
   R. Gerardy-Schahn et al., "Nucleotide sugar transporters: Biological and functional aspects", BIOCHIMIE, 83(8), 2001, pp. 775-782
7. Freeze, HH; Westphal, V
   Balancing N-linked glycosylation to avoid disease
   BIOCHIMIE
   
   H.H. Freeze e V. Westphal, "Balancing N-linked glycosylation to avoid disease", BIOCHIMIE, 83(8), 2001, pp. 791-799
8. Tierney, E; Nwokoro, NA; Porter, FD; Freund, LS; Ghuman, JK; Kelley, RI
   Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   E. Tierney et al., "Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome", AM J MED G, 98(2), 2001, pp. 191-200
9. Van Dijk, W; Koeleman, C; Hof, BV; Poland, D; Jakobs, C; Jaeken, J
   Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)
   FEBS LETTERS
   
   W. Van Dijk et al., "Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)", FEBS LETTER, 494(3), 2001, pp. 232-235
10. Kjaergaard, S; Schwartz, M; Skovby, F
    Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype
    ARCHIVES OF DISEASE IN CHILDHOOD
    
    S. Kjaergaard et al., "Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype", ARCH DIS CH, 85(3), 2001, pp. 236-239
11. Westphal, V; Schottstadt, C; Marquardt, T; Freeze, HH
    Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic
    MOLECULAR GENETICS AND METABOLISM
    
    V. Westphal et al., "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic", MOL GEN MET, 70(3), 2000, pp. 219-223
12. Chou, YH; Tiu, CM; Hsu, CC; Chiou, HJ; Hsieh, SL; Teng, MMH; Yu, C
    Hereditary haemorrhagic teleangiectasia: hepatic lesions demonstrated withcolour Doppler and power Doppler sonography
    EUROPEAN JOURNAL OF RADIOLOGY
    
    Y.H. Chou et al., "Hereditary haemorrhagic teleangiectasia: hepatic lesions demonstrated withcolour Doppler and power Doppler sonography", EUR J RAD, 34(1), 2000, pp. 52-56
13. Lapointe, JM; Lachance, S; Steffen, DJ
    Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle
    VETERINARY PATHOLOGY
    
    J.M. Lapointe et al., "Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle", VET PATH, 37(5), 2000, pp. 508-511
14. Hempe, JM; Craver, RD
    Separation of hemoglobin variants with similar charge by capillary isoelectric focusing: Value of isoelectric point for identification of common and uncommon hemoglobin variants
    ELECTROPHORESIS
    
    J.M. Hempe e R.D. Craver, "Separation of hemoglobin variants with similar charge by capillary isoelectric focusing: Value of isoelectric point for identification of common and uncommon hemoglobin variants", ELECTROPHOR, 21(4), 2000, pp. 743-748
15. Norgaard-Pedersen, B; Simonsen, H
    Biological specimen banks in neonatal screening
    ACTA PAEDIATRICA
    
    B. Norgaard-Pedersen e H. Simonsen, "Biological specimen banks in neonatal screening", ACT PAEDIAT, 88, 1999, pp. 106-109
16. Laikre, L
    Hereditary defects and conservation genetic management of captive populations
    ZOO BIOLOGY
    
    L. Laikre, "Hereditary defects and conservation genetic management of captive populations", ZOO BIOL, 18(2), 1999, pp. 81-99
17. KANAJI T; OKAMURA T; KUROIWA M; MURAKAWA M; KAMURA T; NIHO Y
    A SEQUENCE-ANALYSIS OF VON-WILLEBRAND-FACTOR MESSENGER-RNA, GENE, ANDPSEUDOGENE IN 2 PATIENTS WITH VON-WILLEBRAND DISEASE TYPE 2B, AND AN INVESTIGATION OF GENE CONVERSION IN ITS GENE
    International journal of hematology
    
    T. Kanaji et al., "A SEQUENCE-ANALYSIS OF VON-WILLEBRAND-FACTOR MESSENGER-RNA, GENE, ANDPSEUDOGENE IN 2 PATIENTS WITH VON-WILLEBRAND DISEASE TYPE 2B, AND AN INVESTIGATION OF GENE CONVERSION IN ITS GENE", International journal of hematology, 64(1), 1996, pp. 53-59
18. YAMADA M; FUKUDA Y; KOYAMA Y; NAKANO I; URANO F; ISOBE K; TAKAMATSU J; IMOTO M; HAYAKAWA T
    A LONG-TERM FOLLOW-UP-STUDY OF INTERFERON TREATMENT FOR CHRONIC HEPATITIS-C IN JAPANESE PATIENTS WITH CONGENITAL BLEEDING DISORDERS
    European journal of haematology
    
    M. Yamada et al., "A LONG-TERM FOLLOW-UP-STUDY OF INTERFERON TREATMENT FOR CHRONIC HEPATITIS-C IN JAPANESE PATIENTS WITH CONGENITAL BLEEDING DISORDERS", European journal of haematology, 57(2), 1996, pp. 165-170
19. ROTH GJ
    MOLECULAR DEFECTS IN THE BERNARD-SOULIER SYNDROME - ASSESSMENT OF RECEPTOR GENES, TRANSCRIPTS AND PROTEINS
    Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    
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20. TOHMA M
    DETERMINATION OF FETAL BILE-ACIDS AND REL ATED STEROIDAL COMPOUNDS AND THEIR PROFILE IN NEONATAL BIOLOGICAL-FLUIDS
    Yakugaku zasshi
    
    M. Tohma, "DETERMINATION OF FETAL BILE-ACIDS AND REL ATED STEROIDAL COMPOUNDS AND THEIR PROFILE IN NEONATAL BIOLOGICAL-FLUIDS", Yakugaku zasshi, 116(10), 1996, pp. 753-775
21. CHEN H; BLACKBURN WR; WERTELECKI W
    FETAL AKINESIA AND MULTIPLE PERINATAL FRACTURES
    American journal of medical genetics
    
    H. Chen et al., "FETAL AKINESIA AND MULTIPLE PERINATAL FRACTURES", American journal of medical genetics, 55(4), 1995, pp. 472-477