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La ricerca find articoli where soggetti phrase all words 'genetic heterogeneity' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 618 riferimenti
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    1. Hodgson, DJ; Vanbergen, AJ; Watt, AD; Hails, RS; Cory, JS
      Phenotypic variation between naturally co-existing genotypes of a Lepidopteran baculovirus

      EVOLUTIONARY ECOLOGY RESEARCH
    2. Exner, M
      Successful vaccination for Lyme disease: a novel mechanism?

      EXPERT OPINION ON BIOLOGICAL THERAPY
    3. Weatherall, DJ
      Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias

      NATURE REVIEWS GENETICS
    4. Kittiniyom, K; Gorse, KM; Dalbegue, F; Lichy, JH; Taubenberger, JK; Newsham, IF
      Allelic loss on chromosome band 18p11.3 occurs early and reveals heterogeneity in breast cancer progression

      BREAST CANCER RESEARCH
    5. Ashley, GA; Shabbeer, J; Yasuda, M; Eng, CM; Desnick, RJ
      Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

      JOURNAL OF HUMAN GENETICS
    6. Itoh, T; Kikuchi, K; Odagawa, Y; Takata, S; Yano, K; Okada, S; Haneda, N; Ogawa, S; Nakano, O; Kawahara, Y; Kasai, H; Nakayama, T; Fukutomi, T; Sakurada, H; Shimizu, A; Yazaki, Y; Nagai, R; Nakamura, Y; Tanaka, T
      Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome

      JOURNAL OF HUMAN GENETICS
    7. Gibson, W
      Molecular characterization of field isolates of human pathogenic trypanosomes

      TROPICAL MEDICINE & INTERNATIONAL HEALTH
    8. Tallaksen, CME; Durr, A; Brice, A
      Recent advances in hereditary spastic paraplegia

      CURRENT OPINION IN NEUROLOGY
    9. Muscardin, LM; Poggiali, F; Balus, L; Venuti, A
      HPV5b variant in a neoplastic lesion of an Italian patient affected by epidermodysplasia verruciformis

      EUROPEAN JOURNAL OF DERMATOLOGY
    10. Takashima, H; Boerkoel, CF; Lupski, JR
      Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

      GENETICS IN MEDICINE
    11. Goth, L
      A new type of inherited catalase deficiencies: Its characterization and comparison to the Japanese and Swiss type of acatalasemia

      BLOOD CELLS MOLECULES AND DISEASES
    12. Vermeire, S; Peeters, M; Vlietinck, R; Joossens, S; Den Hond, E; Bulteel, V; Bossuyt, X; Geypens, B; Rutgeerts, P
      Anti-Saccharomyces cerevisiae antibodies (ASCA), phenotypes of IBD, and intestinal permeability: A study in IBD families

      INFLAMMATORY BOWEL DISEASES
    13. Edwards, SM; Kote-Jarai, Z; Hamoudi, R; Eeles, RA
      An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations - Fluorescent mutation detection (F-MD)

      HUMAN MUTATION
    14. Wang, WW; Spurdle, AB; Kolachana, P; Bove, B; Modan, B; Ebbers, SM; Suthers, G; Tucker, MA; Kaufman, DJ; Doody, MM; Tarone, RE; Daly, M; Levavi, H; Pierce, H; Chetrit, A; Yechezkel, GH; Chenevix-Trench, G; Offit, K; Godwin, AK; Struewing, JP
      A single nucleotide polymorphism in the 5 ' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers

      CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
    15. Diaz-Cano, SJ; Blanes, A; Wolfe, HJ
      PCR techniques for clonality assays

      DIAGNOSTIC MOLECULAR PATHOLOGY
    16. Hebert, SC
      Presence of luminal K+, a prerequisite for active NaCl transport in the cortical thick ascending limb of Henle's loop of rabbit kidney - Commentary

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    17. Ecelbarger, CA; Kim, GH; Knepper, MA; Liu, J; Tate, M; Welling, PA; Wade, JB
      Regulation of potassium channel Kir 1.1 (ROMK) abundance in the thick ascending limb of Henle's loop

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    18. Jones, LR; Weber, EL
      Application of single-strand conformation polymorphism to the study of bovine viral diarrhea virus isolates

      JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION
    19. Dechairo, B; Dimon, C; van Heel, D; Mackay, I; Edwards, M; Scambler, P; Jewell, D; Cardon, L; Lench, N; Carey, A
      Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Livneh, A; Aksentijevich, I; Langevitz, P; Torosyna, Y; G-Shoham, N; Shinar, Y; Pras, E; Zaks, N; Padeh, S; Kastner, DL; Pras, M
      A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Cancel-Tassin, G; Latil, A; Valeri, A; Mangin, P; Fournier, G; Berthon, P; Cussenot, O
      PCAP is the major known prostate cancer predisposing locus in families from south and west Europe

      EUROPEAN JOURNAL OF HUMAN GENETICS
    22. Katsanis, N; Lupski, JR; Beales, PL
      Exploring the molecular basis of Bardet-Biedl syndrome

      HUMAN MOLECULAR GENETICS
    23. Pesch, UEA; Leo-Kottler, B; Mayor, S; Jurklies, B; Kellner, U; Apfelstedt-Sylla, E; Zrenner, E; Alexander, C; Wissinger, B
      OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

      HUMAN MOLECULAR GENETICS
    24. Toomes, C; Marchbank, NJ; Mackey, DA; Craig, JE; Newbury-Ecob, RA; Bennett, CP; Vize, CJ; Desai, SP; Black, GCM; Patel, N; Teimory, M; Markham, AF; Inglehearn, CF; Churchill, AJ
      Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

      HUMAN MOLECULAR GENETICS
    25. Mahjneh, I; Marconi, G; Bushby, K; Anderson, LVB; Tolvanen-Mahjneh, H; Somer, H
      Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

      NEUROMUSCULAR DISORDERS
    26. Bogdan, I; Xin, H; Burg, G; Boni, R
      Heterogeneity of allelic deletions within melanoma metastases

      MELANOMA RESEARCH
    27. Schernthaner, G; Hink, S; Kopp, HP; Muzyka, B; Streit, G; Kroiss, A
      Progress in the characterization of slowly progressive autoimmune diabetesin adult patients (LADA or type 1,5 diabetes)

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    28. Mondovits, B; Vermylen, C; Brichard, B; Cornu, G
      Molecular biology's contribution to the understanding and treatment of Fanconi anemia

      ARCHIVES DE PEDIATRIE
    29. Graber, D; Antignac, C; Deschenes, G; Coulin, A; Hermouet, Y; Pedespan, JM; Fontan, D; Ponsot, G
      Cerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes

      ARCHIVES DE PEDIATRIE
    30. Aoki, H; Ishikawa, K; Sakoda, Y; Sekiguchi, H; Kodama, M; Suzuki, S; Fukusho, A
      Characterization of classical swine fever virus associated with defective interfering particles containing a cytopathogenic subgenomic RNA isolated from wild boar

      JOURNAL OF VETERINARY MEDICAL SCIENCE
    31. Yamada, S; Ajioka, Y; Watanabe, H; Hashidate, H; Takaku, H; Kazama, S; Yokoyama, J; Nishikura, K; Fujiwara, T; Asakura, K
      Heterogeneity of p53 mutational status in intramucosal carcinoma of the colorectum

      JAPANESE JOURNAL OF CANCER RESEARCH
    32. Porto, G; Cardoso, CS; Gordeuk, V; Cruz, E; Fraga, J; Areias, J; Oliveira, JC; Bravo, F; Gangaidzo, IT; MacPhail, AP; Gomo, ZAR; Moyo, VM; Melo, G; Silva, C; Justica, B; de Sousa, M
      Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload

      EUROPEAN JOURNAL OF HAEMATOLOGY
    33. Vainzof, M; Anderson, LVB; McNally, EM; Davis, DB; Faulkner, G; Valle, G; Moreira, ES; Pavanello, RCM; Passos-Bueno, MR; Zatz, M
      Dysferlin protein analysis in limb-girdle muscular dystrophies

      JOURNAL OF MOLECULAR NEUROSCIENCE
    34. Good, D; Busfield, F; Duffy, D; Lovelock, PK; Kesting, JB; Cameron, DP; Shaw, JTE
      Familial Paget's disease of bone: Nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree

      JOURNAL OF BONE AND MINERAL RESEARCH
    35. Dizier, MH; Babron, MC
      Triangle test statistic in discordant sib pairs: Test of genetic heterogeneity of asthma and atopy in CSGA families

      GENETIC EPIDEMIOLOGY
    36. Heard-Costa, NL; Demissie, S; DeStefano, AL; Knowlton, BA; Maher, NE; Myers, RH; Volcjak, JS; Wilk, JB; Cupples, LA
      Influence of marker heterozygosity and genetic heterogeneity on fine mapping

      GENETIC EPIDEMIOLOGY
    37. Sillanpaa, MJ; Kilpikari, R; Ripatti, S; Onkamo, P; Uimari, P
      Bayesian association mapping for quantitative traits in a mixture of two populations

      GENETIC EPIDEMIOLOGY
    38. Mizrahi, EM
      Neonatal seizures and neonatal epileptic syndromes

      NEUROLOGIC CLINICS
    39. Martin, AM; Blackwood, MA; Antin-Ozerkis, D; Shih, HA; Calzone, K; Colligon, TA; Seal, S; Collins, N; Stratton, MR; Weber, BL; Nathanson, KL
      Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic

      JOURNAL OF CLINICAL ONCOLOGY
    40. Ben-Chetrit, E; Levy, M
      Enigmas in familial Mediterranean fever (FMF)

      CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
    41. Pietrapertosa, A; Palma, A; Campanale, D; Delios, G; Vitucci, A; Tannoia, N
      Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency

      HAEMATOLOGICA
    42. de Pancorbo, MM; Lopez-Martinez, M; Martinez-Bouzas, C; Castro, A; Fernandez-Fernandez, I; de Mayolo, GA; de Mayolo, AA; de Mayolo, PA; Rowold, DJ; Herrera, RJ
      The Basques according to polymorphic Alu insertions

      HUMAN GENETICS
    43. Kuhlenbaumer, G; Meuleman, J; De Jonghe, P; Falck, B; Young, P; Hunermund, G; Van Broeckhoven, C; Timmerman, V; Stogbauer, F
      Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous

      JOURNAL OF NEUROLOGY
    44. Pau, H; Carney, AS; Murty, GE
      Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations

      CLINICAL OTOLARYNGOLOGY
    45. Nagai, M; Ito, T; Sugita, S; Genno, A; Takeuchi, K; Ozawa, T; Sakoda, Y; Nishimori, T; Takamura, K; Akashi, H
      Genomic and serological diversity of bovine viral diarrhea virus in Japan

      ARCHIVES OF VIROLOGY
    46. Scolari, F; Viola, BF; Prati, E; Ghiggeri, GM; Caridi, G; Amoroso, A; Casari, G; Maiorca, R
      Medullary cystic kidney disease: Past and present

      RARE KIDNEY DISEASES
    47. de Sanctis, L; Bonetti, G; Bruno, M; De Luca, F; Bisceglia, L; Palacin, M; Dianzani, I; Ponzone, A
      Cystinuria phenotyping by oral lysine and arginine loading

      CLINICAL NEPHROLOGY
    48. Yorgin, PD; Belson, A; Higgins, J; Alexander, SR
      Pulse methylprednisolone, cyclosporine, and ACE inhibitor therapy decreases proteinuria in two siblings with familial focal segmental glomerulosclerosis

      AMERICAN JOURNAL OF KIDNEY DISEASES
    49. Fink, JK
      Progressive spastic paraparesis: Hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis

      SEMINARS IN NEUROLOGY
    50. Engel, U; Bohlander, SK; Bink, K; Hinney, B; Laccone, F; Bartels, I
      Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism

      HUMAN REPRODUCTION
    51. Disse-Nicodeme, S; Desitter, I; Fiquet-Kempf, B; Houot, AM; Stern, N; Delahousse, M; Potier, J; Ader, JL; Jeunemaitre, X
      Genetic heterogeneity of familial hyperkalaemic hypertension

      JOURNAL OF HYPERTENSION
    52. Urbizu, JM; Gainza, FJ; Lampreabe, I
      Molecular basis of inherited tubular disorders affecting electrolytes and water transport

      NEFROLOGIA
    53. Hedera, P; Williamson, JA; Rainier, S; Alvarado, D; Tukel, T; Apak, M; Fink, JK
      Prenatal diagnosis of hereditary spastic paraplegia

      PRENATAL DIAGNOSIS
    54. Goth, L; Rass, P; Madarasi, I
      A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia

      ELECTROPHORESIS
    55. Tajima, M; Frey, HR; Yamato, O; Maede, Y; Moennig, V; Scholz, H; Greiser-Wilke, I
      Prevalence of genotypes 1 and 2 of bovine viral diarrhea virus in Lower Saxony, Germany

      VIRUS RESEARCH
    56. Pozzilli, P; Di Mario, U
      Autoimmune diabetes not requiring insulin at diagnosis (latent autoimmune diabetes of the adult) - Definition, characterization and potential prevention

      DIABETES CARE
    57. Galjaard, RJH; van der Ham, LI; Posch, NAS; Dijkstra, PF; Oostra, BA; Hovius, SER; Timmenga, EJF; Sonneveld, GJ; Hoogeboom, AJM; Heutink, P
      Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Rozet, JM; Perrault, I; Gerber, S; Hanein, S; Barbet, F; Ducroq, D; Souied, E; Munnich, A; Kaplan, J
      Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    59. Nahimana, A; Cushion, MT; Blanc, DS; Hauser, PM
      Rapid PCR-single-strand conformation polymorphism method to differentiate and estimate relative abundance of Pneumocystis carinii special forms infecting rats

      JOURNAL OF CLINICAL MICROBIOLOGY
    60. Auranen, M; Ala-Mello, S; Turunen, JA; Jarvela, I
      Further evidence for linkage of autosomal-dominant medullary cystic kidneydisease on chromosome 1q21

      KIDNEY INTERNATIONAL
    61. Giebisch, G
      Renal potassium channels: Function, regulation, and structure

      KIDNEY INTERNATIONAL
    62. Derst, C; Hirsch, JR; Preisig-Muller, R; Wischmeyer, E; Karschin, A; Doring, F; Thomzig, A; Veh, RW; Schlatter, E; Kummer, W; Daut, J
      Cellular localization of the potassium channel Kir7.1 in guinea pig and human kidney

      KIDNEY INTERNATIONAL
    63. Mizoguchi, K; Cha, SH; Chairoungdua, A; Kim, DK; Shigeta, Y; Matsuo, H; Fukushima, J; Awa, Y; Akakura, K; Goya, T; Ito, H; Endou, H; Kanai, Y
      Human cystinuria-related transporter: Localization and functional characterization

      KIDNEY INTERNATIONAL
    64. Branten, AJW; van den Born, J; Jansen, JLJ; Assmann, KJM; Wetzels, JFM; Dijkman, HBPM
      Familial nephropathy differing from minimal change nephropathy and focal glomerulosclerosis

      KIDNEY INTERNATIONAL
    65. Cruz, DN; Shaer, AJ; Bia, MJ; Lifton, RP; Simon, DB
      Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life

      KIDNEY INTERNATIONAL
    66. Jeck, N; Reinalter, SC; Henne, T; Marg, W; Mallmann, R; Pasel, K; Vollmer, M; Klaus, G; Leonhardt, A; Seyberth, HW; Konrad, M
      Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness

      PEDIATRICS
    67. Cabot, B; Martell, M; Esteban, JI; Piron, M; Otero, T; Esteban, R; Guardia, J; Gomez, J
      Longitudinal evaluation of the structure of replicating and circulating hepatitis C virus quasispecies in nonprogressive chronic hepatitis C patients

      JOURNAL OF VIROLOGY
    68. Hall, JS; French, R; Morris, TJ; Stenger, DC
      Structure and temporal dynamics of populations within wheat streak mosaic virus isolates

      JOURNAL OF VIROLOGY
    69. Franciotta, D; Cuccia, M; Dondi, E; Piccolo, G; Cosi, V
      Polymorphic markers in MHC class II/III region: a study on Italian patients with myasthenia gravis

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    70. Olschwang, S; Boisson, C; Thomas, G
      Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma

      JOURNAL OF MEDICAL GENETICS
    71. Ariga, T; Oda, N; Sanstisteban, I; Arrendondo-Vega, FX; Shioda, M; Ueno, H; Terada, K; Kobayashi, K; Hershfield, MS; Sakiyama, Y
      Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency

      JOURNAL OF IMMUNOLOGY
    72. Feolo, M; Fuller, TC; Taylor, M; Zone, JJ; Neuhausen, SL
      A strategy for high throughput HLA-DQ typing

      JOURNAL OF IMMUNOLOGICAL METHODS
    73. Wei, B; Dalwadi, H; Gordon, LK; Landers, C; Bruckner, D; Targan, SR; Braun, J
      Molecular cloning of a Bacteroides caccae TonB-linked outer membrane protein identified by an inflammatory bowel disease marker antibody

      INFECTION AND IMMUNITY
    74. Leroy, BP; Aragon-Martin, JA; Weston, MD; Bessant, DAR; Willis, C; Webster, AR; Bird, AC; Kimberling, WJ; Payne, AM; Bhattacharya, SS
      Spectrum of mutations in USH2A in British patients with Usher syndrome type II

      EXPERIMENTAL EYE RESEARCH
    75. Angeli, S; Carrera, P; Del Sette, M; Assini, A; Grandis, M; Biancolini, D; Ferrari, M; Gandolfo, C
      Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcorticalinfarcts and leukoencephalopathy

      EUROPEAN NEUROLOGY
    76. Nusing, RM; Reinalter, SC; Peters, M; Komhoff, M; Seyberth, HW
      Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: Therapeutic use of the cyclooxygenase-2 inhibitor nimesulide

      CLINICAL PHARMACOLOGY & THERAPEUTICS
    77. Katsanis, N; Shroyer, NF; Lewis, RA; Cavender, JC; Al-Rajhi, AA; Jabak, M; Lupski, JR
      Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

      CLINICAL GENETICS
    78. Takimoto, Y; Shimazui, T; Akaza, H; Sato, N; Noguchi, M
      Genetic heterogeneity of surgically resected prostate carcinomas and theirbiopsy specimens is related to their histologic differentiation

      CANCER
    79. Vaurs-Barriere, C; Penault-Llorca, F
      Molecular abnormalities in epithelial ovarian tumors: present and future

      BULLETIN DU CANCER
    80. Mullan, B; Kenny-Walsh, E; Collins, JK; Shanahan, F; Fanning, LJ
      Inferred hepatitis C virus quasispecies diversity is influenced by choice of DNA polymerase in reverse transcriptase-polymerase chain reactions

      ANALYTICAL BIOCHEMISTRY
    81. Towbin, JA; Vatta, M
      Molecular biology and the prolonged QT syndromes

      AMERICAN JOURNAL OF MEDICINE
    82. Risch, HA; McLaughlin, JR; Cole, DEC; Rosen, B; Bradley, L; Kwan, E; Jack, E; Vesprini, DJ; Kuperstein, G; Abrahamson, JLA; Fan, I; Wong, B; Narod, SA
      Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

      AMERICAN JOURNAL OF HUMAN GENETICS
    83. Gutknecht, L
      Full-genome scans with autistic disorder: A review

      BEHAVIOR GENETICS
    84. Giannattasio, S; Dianzani, I; Lattanzio, P; Spada, M; Romano, V; Cali, F; Andria, G; Ponzone, A; Marra, E; Piazza, A
      Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes

      HUMAN HEREDITY
    85. De Paepe, A; Nuytinck, L
      Heritable collagen disorders: From genotype to phenotype

      ACTA CLINICA BELGICA
    86. Karayi, MK; Neal, DE; Markham, AF
      Current status of linkage studies in hereditary prostate cancer

      BJU INTERNATIONAL
    87. Provini, F; Plazzi, G; Lugaresi, E
      From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy

      CLINICAL NEUROPHYSIOLOGY
    88. Zucconi, M; Ferini-Strambi, L
      NREM parasomnias: arousal disorders and differentiation from nocturnal frontal lobe epilepsy

      CLINICAL NEUROPHYSIOLOGY
    89. Rasmussen, HB; Clausen, J
      Genetic risk factors in multiple sclerosis and approaches to their identification

      JOURNAL OF NEUROVIROLOGY
    90. Adwan, G; Papa, A; Kouidou, S; Alexiou, S; Ialissiovas, N; Itoutsos, I; Kiosses, V; Antoniadis, A
      Genetic heterogeneity of HIV-1 in Greece

      MICROBES AND INFECTION
    91. Doffinger, R; Altare, F; Casanova, JL
      Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection

      MICROBES AND INFECTION

    92. Urinary tract malformations and renal cystic dysplasias

      PROGRES EN UROLOGIE
    93. Zhong, N; Moroziewicz, DN; Ju, WN; Jurkiewicz, A; Johnston, L; Wisniewski, KE; Brown, WT
      Heterogeneity of late-infantile neuronal ceroid lipofuscinosis

      GENETICS IN MEDICINE
    94. Chen, AS; Kovach, MJ; Herman, K; Avakian, A; Frank, W; Forrester, S; Lin, JP; Kimonis, V
      Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families

      GENETICS IN MEDICINE
    95. Zhong, N
      Neuronal ceroid lipofuscinoses and possible pathogenic mechanism

      MOLECULAR GENETICS AND METABOLISM
    96. Pras, E
      Cystinuria at the turn of the millennium: Clinical aspects and new molecular developments

      MOLECULAR UROLOGY
    97. Mizrahi, EM; Clancy, RR
      Neonatal seizures: Early-onset seizure syndromes and their consequences for development

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    98. Goth, L; Shemirani, A; Kalmar, T
      A novel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia

      BLOOD CELLS MOLECULES AND DISEASES
    99. de Beer, F; van Dijk, KW; Jong, MC; van Vark, LC; van der Zee, A; Hofker, MH; Fallaux, FJ; Hoeben, RC; Smelt, AHM; Havekes, LM
      Apolipoprotein E2 (Lys146 -> Gln) causes hypertriglyceridemia due to an apolipoprotein E variant-specific inhibition of lipolysis of very low densitylipoproteins-triglycerides

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    100. Dollet, M; Sturm, NR; Sanchez-Moreno, M; Campbell, DA
      5S ribosomal RNA gene repeat sequences define at least eight groups of plant trypanosomatids (Phytomonas spp.): Phloem-restricted pathogens form a distinct section

      JOURNAL OF EUKARYOTIC MICROBIOLOGY


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/06/20 alle ore 00:51:47