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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
    2. Black, FO; Pesznecker, SC; Allen, K; Gianna, C
      A vestibular phenotype for Waardenburg syndrome?

      OTOLOGY & NEUROTOLOGY
    3. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    4. Petit, C
      Usher syndrome: From genetics to pathogenesis

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    5. Lai, LW; Lien, YHH
      Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapy

      EXPERT OPINION ON BIOLOGICAL THERAPY
    6. Schachter, H
      Congenital disorders involving defective N-glycosylation of proteins

      CELLULAR AND MOLECULAR LIFE SCIENCES
    7. Machado, AF; Martin, LJ; Collins, MD
      Pax3 and the splotch mutations: Structure, function, and relationship to teratogenesis, including gene-chemical interactions

      CURRENT PHARMACEUTICAL DESIGN
    8. Wang, LK; Chen, HP; Chang, PJ; Kang, FC; Tsai, YC
      Axillary brachial plexus block with patient controlled analgesia for complex regional pain syndrome type I: A case report

      REGIONAL ANESTHESIA AND PAIN MEDICINE
    9. Cihakova, D; Trebusak, K; Heino, M; Fadeyev, V; Tiulpakov, A; Battelino, T; Tar, A; Halasz, Z; Blumel, P; Tawfik, S; Krohn, K; Lebl, J; Peterson, P
      Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

      HUMAN MUTATION
    10. 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
    11. Konno, P; Silm, H
      Waardenburg syndrome

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    12. Ferrari, MC; Parini, R; Di Rocco, M; Radetti, G; Beck-Peccoz, P; Persani, L
      Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    13. Myllyharju, J; Kivirikko, KI
      Collagens and collagen-related diseases

      ANNALS OF MEDICINE
    14. McCrory, C; Westerling, D
      Polycythemia vera presenting as complex regional pain syndrome of the lower limbs

      CLINICAL JOURNAL OF PAIN
    15. Schurmann, M; Gradl, G; Wizgal, I; Tutic, M; Moser, C; Azad, S; Beyer, A
      Clinical and physiologic evaluation of stellate ganglion blockade for complex regional pain syndrome type I

      CLINICAL JOURNAL OF PAIN
    16. Al-Shurafa, HA; Bassas, AF; Broering, DC; Rogiers, XG; Wali, SH; Burdelski, MM
      Management of Crigler-Najjar syndrome type I

      SAUDI MEDICAL JOURNAL
    17. Davis, JA; Freeze, HH
      Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    18. Freeze, HH
      Congenital disorders of glycosylation and the pediatric liver

      SEMINARS IN LIVER DISEASE
    19. du Plessis, JA; Pretorius, PJ; Lippert, MM; Knoll, DP; Erasmus, E; van der Westhuizen, FH; Mienie, LJ
      An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa

      SOUTH AFRICAN MEDICAL JOURNAL
    20. Thauvin-Robinet, C; Rousseau, T; Durand, C; Laurent, N; Maingueneau, C; Faivre, L; Sagot, P; Nivelon-Chevallier, A
      Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

      PRENATAL DIAGNOSIS
    21. Nadol, JB; Merchant, SN
      Histopathology and molecular genetics of hearing loss in the human

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    22. Satish, PR; Surolia, A
      Exploiting lectin affinity chromatography in clinical diagnosis

      JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
    23. Carrel, T; Herman, GE; Moore, GE; Stanier, P
      Lack of mutations in ZIC3 in three families with neural tube defects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Seeliger, MW; Zrenner, E; Apfelstedt-Sylla, E; Jaissle, GB
      Identification of Usher syndrome subtypes by ERG implicit time

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    25. Kumar, V; Kalita, J; Gujral, RB; Sharma, VP; Misra, UK
      A study of bone densitometry in patients with complex regional pain syndrome after stroke

      POSTGRADUATE MEDICAL JOURNAL
    26. Schalkwijk, J; Zweers, MC; Steijlen, PM; Dean, WB; Taylor, G; van Vlijmen, IM; van Haren, B; Miller, WL; Bristow, J
      A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

      NEW ENGLAND JOURNAL OF MEDICINE
    27. Kadakol, A; Sappal, BS; Ghosh, SS; Lowenheim, M; Chowdhury, A; Chowdhury, S; Santra, A; Arias, IM; Chowdhury, JR; Chowdhury, NR
      Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

      JOURNAL OF MEDICAL GENETICS
    28. Mao, JR; Bristow, J
      The Ehlers-Danlos syndrome: on beyond collagens

      JOURNAL OF CLINICAL INVESTIGATION
    29. Chanut-Delalande, H; Fichard, A; Bernocco, S; Garrone, R; Hulmes, DJS; Ruggiero, F
      Control of heterotypic fibril formation by collages V is determined by chain stoichiometry

      JOURNAL OF BIOLOGICAL CHEMISTRY
    30. Schacht, V; Borelli, S; Tsambaos, D; Spycher, MA; Trueb, RM
      The trichorhinophalangeal syndrome. Case report and biophysical analysis of the hair shaft parameters

      HAUTARZT
    31. Obermayer-Straub, P; Perheentupa, J; Braun, S; Kayser, A; Barut, A; Loges, S; Harms, A; Dalekos, G; Strassburg, CP; Manns, MP
      Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

      GASTROENTEROLOGY
    32. Huygen, FJPM; de Bruijn, AGJ; Klein, J; Zijlstra, FJ
      Neuroimmune alterations in the complex regional pain syndrome

      EUROPEAN JOURNAL OF PHARMACOLOGY
    33. Machado, AF; Zimmerman, EF; Hovland, DN; Weiss, R; Collins, MD
      Diabetic embryopathy in C57BL/6J mice - Altered fetal sex ratio and impactof the splotch allele

      DIABETES
    34. Helander, A; Eriksson, G; Stibler, H; Jeppsson, JO
      Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse

      CLINICAL CHEMISTRY
    35. Kim, CT; Bryant, P
      Complex regional pain syndrome (type I) after electrical injury: A case report of treatment with continuous epidural block

      ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
    36. Ribbers, GM; Stam, HJ
      Complex regional pain syndrome type I treated with topical capsaicin: A case report

      ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
    37. Betterle, C; Dal Pra, C; Greggio, N; Volpato, M; Zanchetta, R
      Autoimmunity in isolated Addison's disease and in polyglandular autoimmunediseases type 1, 2 and 4

      ANNALES D ENDOCRINOLOGIE
    38. Resendes, BL; Williamson, RE; Morton, CC
      At the speed of sound: Gene discovery in the auditory system

      AMERICAN JOURNAL OF HUMAN GENETICS
    39. Ahmed, ZM; Riazuddin, S; Bernstein, SL; Ahmed, Z; Khan, S; Griffith, AJ; Morell, RJ; Friedman, TB; Riazuddin, S; Wilcox, ER
      Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. Bork, JM; Peters, LM; Riazuddin, S; Bernstein, SL; Ahmed, ZM; Ness, SL; Polomeno, R; Ramesh, A; Schloss, M; Srisailpathy, CRS; Wayne, S; Bellman, S; Desmukh, D; Ahmed, Z; Khan, SN; Kaloustian, VMD; Li, XC; Lalwani, A; Riazuddin, S; Bitner-Glindzicz, M; Nance, WE; Liu, XZ; Wistow, G; Smith, RJH; Griffith, AJ; Wilcox, ER; Friedman, TB; Morell, RJ
      Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Schurmann, M; Gradl, G; Zaspel, J; Kayser, M; Lohr, P; Andress, HJ
      Peripheral sympathetic function as a predictor of complex regional pain syndrome type I (CRPS I) in patients with radial fracture

      AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL
    42. Pfeiffer, G; Wicklein, EM; Wittig, K
      Sensitivity and specificity of different conduction block criteria

      CLINICAL NEUROPHYSIOLOGY
    43. Westphal, V; Srikrishna, G; Freeze, HH
      Congenital disorders of glycosylation: Have you encountered them?

      GENETICS IN MEDICINE
    44. Obermayer-Straub, P; Strassburg, CP; Manns, MP
      Autoimmune polyglandular syndrome type 1

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    45. Winer, KK; Merke, DP
      Picture of the month - Autoimmune polyglandular syndrome type 1

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    46. Bitner-Glindzicz, M; Lindley, KJ; Rutland, P; Blaydon, D; Smith, VV; Milla, PJ; Hussain, K; Furth-Lavi, J; Cosgrove, KE; Shepherd, RM; Barnes, PD; O'Brien, RE; Farndon, PA; Sowden, J; Liu, XZ; Scanlan, MJ; Malcolm, S; Dunne, MJ; Aynsley-Green, A; Glaser, B
      A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

      NATURE GENETICS
    47. Kadakol, A; Ghosh, SS; Sappal, BS; Sharma, G; Chowdhury, JR; Chowdhury, NR
      Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype

      HUMAN MUTATION
    48. Falorni, A; Laureti, S
      Adrenal autoimmunity and correlation with adrenal dysfunction

      ENDOCRINOLOGIST
    49. Peterson, P; Uibo, R; Krohn, KJE
      Adrenal autoimmunity: Results and developments

      TRENDS IN ENDOCRINOLOGY AND METABOLISM
    50. Melvin, EC; George, TM; Worley, G; Franklin, A; Mackey, J; Viles, K; Shah, N; Drake, CR; Enterline, DS; McLone, D; Nye, J; Oakes, WJ; McLaughlin, C; Walker, ML; Peterson, P; Brei, T; Buran, C; Aben, J; Ohm, B; Bermans, I; Qumsiyeh, M; Vance, J; Pericak-Vance, MA; Speer, MC
      Genetic studies in neural tube defects

      PEDIATRIC NEUROSURGERY
    51. Bondurand, N; Pingault, V; Goerich, DE; Lemort, N; Sock, E; Le Caignec, C; Wegner, M; Goossens, M
      Interaction among SOX10 PAX3 and MITF, three genes altered in Waardenburg syndrome

      HUMAN MOLECULAR GENETICS
    52. Rush, JS; Panneerselvam, K; Waechter, CJ; Freeze, HH
      Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

      GLYCOBIOLOGY
    53. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    54. Joensuu, T; Hamalainen, R; Lehesjoki, AE; de la Chapelle, A; Sankila, EM
      A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q

      GENOMICS
    55. Perniola, R; Falorni, A; Clemente, MG; Forini, F; Accogli, E; Lobreglio, G
      Organ-specific and non-organ-specific autoantibodies in children and youngadults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED)

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    56. Silva, RD; Kater, CE; Dib, SA; Laureti, S; Forini, F; Cosentino, A; Falorni, A
      Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17 alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    57. Morioka, D; Hosaka, Y
      Aesthetic and plastic surgery for trichorhinophalangeal syndrome

      AESTHETIC PLASTIC SURGERY
    58. Tukey, RH; Strassburg, CP
      Human UDP-glucuronosyltransferases: Metabolism, expression, and disease

      ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
    59. Maleki, J; LeBel, AA; Bennett, GJ; Schwartzman, RJ
      Patterns of spread in complex regional pain syndrome, type I (reflex sympathetic dystrophy)

      PAIN
    60. Bilbao, JR; Rica, I; Vazquez, JA; Busturia, MA; Castano, L
      Influence of sex and age at onset on autoantibodies against insulin, GAD(65) and IA2 in recent onset type 1 diabetic patients

      HORMONE RESEARCH
    61. Kanazawa, A; Platt, JL
      Prospects for xenotransplantation of the liver

      SEMINARS IN LIVER DISEASE
    62. Hwang, JB; Hernandez, J; Leduc, R; Frost, SC
      Alternative glycosylation of the insulin receptor prevents oligomerizationand acquisition of insulin-dependent tyrosine kinase activity

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
    63. Matheny, M; Hall, B; Manaligod, JM
      Otolaryngologic aspects of oral-facial-digital syndrome

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    64. Knopf, C; Rod, R; Jaeken, J; Berant, M; Van Schaftingen, E; Fryns, JP; Brill-Zamir, R; Gershoni-Baruch, R; Lischinsky, S; Mandel, H
      Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

      JOURNAL OF INHERITED METABOLIC DISEASE
    65. Imtiaz, F; Worthington, V; Champion, M; Beesley, C; Charlwood, J; Clayton, P; Keir, G; Mian, N; Winchester, B
      Genotypes and phenotypes of patients in the UK with carbohydrate-deficientglycoprotein syndrome type 1

      JOURNAL OF INHERITED METABOLIC DISEASE
    66. Gordon, N
      Carbohydrate-deficient glycoprotein syndromes

      POSTGRADUATE MEDICAL JOURNAL
    67. Lucey, JF; Suresh, GK; Kappas, A
      Crigler-Najjar syndrome, 1952-2000: Learning from parents and patients about a very rare disease and using the Internet to recruit patients for studies

      PEDIATRICS
    68. van Ommen, CH; Peters, M; Barth, PG; Vreken, P; Wanders, RJA; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

      JOURNAL OF PEDIATRICS
    69. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
      Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism

      JOURNAL OF MEDICAL GENETICS
    70. Cremers, CWRJ
      Hearing: cracking the code

      JOURNAL OF LARYNGOLOGY AND OTOLOGY
    71. Reimand, K; Peterson, P; Hyoty, H; Uibo, R; Cooke, I; Weetman, AP; Krohn, KJE
      3 beta-hydroxysteroid dehydrogenase autoantibodies are rare in premature ovarian failure

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    72. Nithiyananthan, R; Heward, JM; Allahabadia, A; Barnett, AH; Franklyn, JA; Gough, SCL
      A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: No evidence for association

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    73. Hampe, CS; Hammerle, LP; Bekris, L; Ortqvist, E; Kockum, I; Rolandsson, O; Landin-Olsson, M; Torn, C; Persson, B; Lernmark, A
      Recognition of glutamic acid decarboxylase (GAD) by autoantibodies from different GAD antibody-positive phenotypes

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    74. Falorni, A; Gambelunghe, G; Forini, F; Kassi, G; Cosentino, A; Candeloro, P; Bolli, GB; Brunetti, P; Calcinaro, F
      Autoantibody recognition of COOH-terminal epitopes of GAD65 marks the riskfor insulin requirement in adult-onset diabetes mellitus

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    75. Soderbergh, A; Rorsman, F; Halonen, M; Ekwall, O; Bjorses, P; Kampe, O; Husebye, ES
      Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    76. Sauter, BV; Parashar, B; Chowdhury, NR; Kadakol, A; Ilan, Y; Singh, H; Milano, J; Strayer, DS; Chowdhury, JR
      A replication-deficient rSV40 mediates liver-directed gene transfer and a long-term amelioration of jaundice in Gunn rats

      GASTROENTEROLOGY
    77. Assmann, B; Hackler, R; Peters, V; Schaefer, JR; Hoffmann, GF
      Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia

      CLINICAL CHEMISTRY
    78. Husebye, ES; Boe, AS; Rorsman, F; Kampe, O; Aakvaag, A; Rygh, T; Flatmark, T; Haavik, J
      Inhibition of aromatic L-amino acid decarboxylase activity by human autoantibodies

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    79. Klemetti, P; Bjorses, P; Tuomi, T; Perheentupa, J; Partanen, J; Rautonen, N; Hinkkanen, A; Ilonen, J; Vaarala, O
      Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    80. Bamashmus, MA; Downey, LM; Inglehearn, CF; Gupta, SR; Mansfield, DC
      Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree

      BRITISH JOURNAL OF OPHTHALMOLOGY
    81. Westphal, V; Murch, S; Kim, S; Srikrishna, G; Winchester, B; Day, R; Freeze, HH
      Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

      AMERICAN JOURNAL OF PATHOLOGY
    82. Weston, MD; Eudy, JD; Fujita, S; Yao, SF; Usami, S; Cremers, C; Greenburg, J; Ramesar, R; Martini, A; Moller, C; Smith, RJ; Sumegi, J; Kimberling, WJ
      Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa

      AMERICAN JOURNAL OF HUMAN GENETICS
    83. Goppert, D; Gardill, K; Beischer, W; Wietholter, H
      Stiff-man syndrome in a patient with type 1 diabetes mellitus and autoimmune thyreoiditis

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    84. Runge, D; Fleig, WE; Michalopoulos, GK; Strom, SC; Runge, DM
      Transplantation of hepatocytes. Possibilities and examples of clinical application

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    85. Eudy, JD; Sumegi, J
      Molecular genetics of Usher syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    86. DIONISIO P; WEBER G; VALENTI M; CARAMELLO E; BERGIA R; BERTO I M; CRAVERO R; AGOSTINI B; MONACI G; BAIARDI P
      Polyendocrine syndrome with severe hypoparathyroidism responsible for progressive renal damage in a case of initial diabetic nephropathy

      Italian journal of mineral and electrolyte metabolism
    87. Machado, AF; Hovland, DN; Pilafas, S; Collins, MD
      Teratogenic response to arsenite during neurulation: Relative sensitivities of C57BL/6J and SWV/Fnn mice and impact of the splotch allele

      TOXICOLOGICAL SCIENCES
    88. Keats, BJB; Berlin, CI
      Genomics and hearing impairment

      GENOME RESEARCH
    89. Tachibana, M
      A cascade of genes related to Waardenburg syndrome

      JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS
    90. Janecke, AR; Meins, M; Sadeghi, M; Grundmann, K; Apfelstedt-Sylla, E; Zrenner, E; Rosenberg, T; Gal, A
      Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity

      HUMAN MUTATION
    91. Alhaidari, Z; Olivry, T; Ortonne, JP
      Melanocytogenesis and melanogenesis: genetic regulation and comparative clinical diseases

      VETERINARY DERMATOLOGY
    92. Li, J; Liu, KC; Jin, FZ; Lu, MM; Epstein, JA
      Transgenic rescue of congenital heart disease and spina bifida in Splotch mice

      DEVELOPMENT
    93. Seta, N
      Carbohydrate-deficient glycoprotein syndrome and glycosylation of N-glycosyl proteins

      ARCHIVES DE PEDIATRIE
    94. Grunewald, S; Huyben, K; de Jong, JGN; Smeitink, JAM; Rubio, E; Boers, GHJ; Conradt, HS; Wendel, U; Wevers, RA
      beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    95. Okladnova, O; Syagailo, YV; Tranitz, M; Riederer, P; Stober, G; Mossner, R; Lesch, KP
      Functional characterization of the human PAX3 gene regulatory region

      GENOMICS
    96. Wagenaar, M; van Aarem, A; Huygen, P; Pieke-Dahl, S; Kimberling, W; Cremers, C
      Hearing impairment related to age in Usher syndrome types 1B and 2A

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    97. Patterson, MC
      Screening for "prelysosomal disorders": Carbohydrate-deficient glycoprotein syndromes

      JOURNAL OF CHILD NEUROLOGY
    98. Aaltonen, J; Bjorses, P
      Cloning of the APECED gene provides new insight into human autoimmunity

      ANNALS OF MEDICINE
    99. Sherry, DD; Wallace, CA; Kelley, C; Kidder, M; Sapp, L
      Short- and long-term outcomes of children with complex regional pain syndrome type I treated with exercise therapy

      CLINICAL JOURNAL OF PAIN
    100. Oerlemans, HM; Oostendorp, RAB; de Boo, T; Perez, RSGM; Goris, RJA
      Signs and symptoms in complex regional pain syndrome type I/Reflex sympathetic dystrophy: Judgment of the physician versus objective measurement

      CLINICAL JOURNAL OF PAIN


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Documento generato il 03/08/20 alle ore 20:11:16