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    1. Muroya, K; Sasagawa, I; Suzuki, Y; Nakada, T; Ishii, T; Ogata, T
      Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

      MOLECULAR HUMAN REPRODUCTION
    2. Abed, AA; Gunther, K; Kraus, C; Hohenberger, W; Ballhausen, WG
      Mutation screening at the RNA level of the STK11/LKB-1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform(STK11 c.597 (boolean AND) 598insIVS4)

      HUMAN MUTATION
    3. Nicolao, P; Carella, M; Giometto, B; Tavolato, B; Cattin, R; Giovannucci-Uzielli, ML; Vacca, M; Della Regione, F; Piva, S; Bortoluzzi, S; Gasparini, P
      DHPLC analysis of the MECP2 gene in Italian Rett patients

      HUMAN MUTATION
    4. Deltas, CC
      Mutations of the human polycystic kidney disease 2 (PKD2) gene

      HUMAN MUTATION
    5. Lin, D; Goldstein, JA; Mhatre, AN; Lustig, LR; Pfister, M; Lalwani, AK
      Assessment of denaturing high-performance liquid chromatography (DHPLC) inscreening for mutations in connexin 26 (GJB2)

      HUMAN MUTATION
    6. Linnebank, M; Homberger, A; Junker, R; Nowak-Goettl, U; Harms, E; Koch, HG
      High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application

      THROMBOSIS AND HAEMOSTASIS
    7. Yamada, K; Hattori, E; Shimizu, M; Sugaya, A; Shibuya, H; Yoshikawa, T
      Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder

      JOURNAL OF NEURAL TRANSMISSION
    8. Caca, K; Ferenci, P; Kuhn, HJ; Polli, C; Willgerodt, H; Kunath, B; Hermann, W; Mossner, J; Berr, F
      High prevalence of the H1069Q mutation in East German patients with Wilsondisease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis

      JOURNAL OF HEPATOLOGY
    9. Mahlknecht, U; Ottmann, OG; Hoelzer, D
      Far-Western based protein-protein interaction screening of high-density protein filter arrays

      JOURNAL OF BIOTECHNOLOGY
    10. Rischewski, J; Schneppenheim, R
      Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene

      JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
    11. Seki, H; Kubota, T; Ikegawa, S; Haga, N; Fujioka, F; Ohzeki, S; Wakui, K; Yoshikawa, H; Takaoka, K; Fukushima, Y
      Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Onay, T; Zielenski, J; Topaloglu, O; Gokgoz, N; Kayserili, H; Apak, MY; Camcioglu, Y; Cokugras, H; Akcakaya, N; Tsui, LC; Kirdar, B
      Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

      HUMAN BIOLOGY
    13. Chen, JM; Bis, AP; Le Bodic, L; Ruszniewski, P; Robaszkiewicz, M; Deprez, PH; Raguenes, O; Quere, I; Andriulli, A; Ferec, C
      Mutational screening of the cationic trypsinogen gene in a large cohort ofsubjects with idiopathic chronic pancreatitis

      CLINICAL GENETICS
    14. Sohocki, MM; Perrault, I; Leroy, BP; Payne, AM; Dharmaraj, S; Bhattacharya, SS; Kaplan, J; Maumenee, IH; Koenekoop, R; Meire, FM; Birch, DG; Heckenlively, JR; Daiger, SP
      Prevalence of AIPL1 mutations in inherited retinal degenerative disease

      MOLECULAR GENETICS AND METABOLISM
    15. Prasad, S; Cucci, RA; Green, GE; Smith, RJH
      Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

      HUMAN MUTATION
    16. Bjursell, C; Erlandson, A; Nordling, M; Nilsson, S; Wahlstrom, J; Stibler, H; Kristiansson, B; Martinsson, T
      PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

      HUMAN MUTATION
    17. Clarke, LA; Jordan, P; Boavida, MG
      Cell type specificity in alternative splicing of the human mismatch repairgene hMSH2

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Kraus, C; Braun-Quentin, C; Ballhausen, WG; Pfeiffer, RA
      RNA-based mutation screening in German families with Sjogren-Larsson syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    19. Demuth, I; Wlodarski, M; Tipping, AJ; Morgan, NV; de Winter, JP; Thiel, M; Grasl, S; Schindler, D; D'Andrea, AD; Altay, C; Kayserili, H; Zatterale, A; Kunze, J; Ebell, W; Mathew, CG; Joenje, H; Sperling, K; Digweed, M
      Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Lev, Z; Kislitsin, D; Rennert, G; Lerner, A
      Utilization of K-ras mutations identified in stool DNA for the early detection of colorectal cancer

      JOURNAL OF CELLULAR BIOCHEMISTRY
    21. Costa, JM; Ernault, P; Vidaud, D; Vidaud, M; Meyer, D; Lavergne, JM
      Fast and efficient mutation detection method using multiplex PCR and cyclesequencing - Application to haemophilia B

      THROMBOSIS AND HAEMOSTASIS
    22. Bennett, LC; Kraemer, R; Liechti-Gallati, S
      Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator

      EUROPEAN JOURNAL OF PEDIATRICS
    23. Engehausen, DG; Schrott, KM
      PROGINS polymorphism of progesterone receptor is increased in female offspring with maternal exposure to diethylstilbestrol

      ANTICANCER RESEARCH
    24. Engehausen, DG; Tong, XW; Oehler, MK; Freund, CT; Schrott, KM; Kieback, DG
      Androgen receptor gene mutations do not occur in ovarian cancer

      ANTICANCER RESEARCH
    25. Walz, T; Geisel, J; Bodis, M; Knapp, JP; Herrmann, W
      Fluorescence-based single-strand conformation polymorphism analysis of mutations by capillary electrophoresis

      ELECTROPHORESIS
    26. Drumea, KC; Levine, E; Bernstein, J; Shank, B; Green, S; Kaplan, E; Mandell, L; Cropley, J; Obropta, J; Braccia, I; Krupnik, A; Rosenstein, BS
      ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based

      BREAST CANCER RESEARCH AND TREATMENT
    27. Vogt, IR; Shimron-Abarbanell, D; Neidt, H; Erdmann, J; Cichon, S; Schulze, TG; Muller, DJ; Maier, W; Albus, M; Borrmann-Hassenbach, M; Knapp, M; Rietschel, M; Propping, P; Nothen, MM
      Investigation of the human serotonin 6 (5-HT6) receptor gene in bipolar affective disorder and schizophrenia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Monaghan, KG; Jackson, CE; KuKuruga, DL; Feldman, GL
      Mutation analysis of the cystic fibrosis and cationic trypsinogen genes inpatients with alcohol-related pancreatitis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Burbano, RR; Medeiros, AC; Mello, AA; Lemos, JA; Bahia, MO; Casartelli, C
      Investigation of single-strand conformational polymorphism of the TP53 gene in women with a family history of breast cancer

      BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
    30. Uehara, S; Sato, J; Nishiyama, Y; Matsuzaki, S; Funato, T; Murotsuki, J; Yaegashi, N; Okamura, K; Yajima, A
      Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17gene result in a 17 alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia

      TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
    31. Kraemer, R; Aebi, C; Aebischer, CC; Gallati, S
      Early detection of lung disease and its association with the nutritional status, genetic background and life events in patients with cystic fibrosis

      RESPIRATION
    32. Xiang, FQ; Buervenich, S; Nicolao, P; Bailey, MES; Zhang, ZP; Anvret, M
      Mutation screening in Rett syndrome patients

      JOURNAL OF MEDICAL GENETICS
    33. David, M; Losonczy, H; Sas, G; Nagy, A; Kutscher, G; Meyer, M
      Identification of mutations in 15 Hungarian families with hereditary protein C deficiency

      BRITISH JOURNAL OF HAEMATOLOGY
    34. Sueoka, H; Moshinetsky, A; Nagao, M; Chiba, S
      Mutation screening of phenylketonuria in the Far East of Russia

      JOURNAL OF HUMAN GENETICS
    35. Tanaka, A; Fujimaru, M; Choeh, K; Isshiki, G
      Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease

      JOURNAL OF HUMAN GENETICS
    36. Mayer, K; Ballhausen, W; Rott, HD
      Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects

      HUMAN MUTATION
    37. Castellvi-Bel, S; Sheikhavandi, S; Telatar, M; Tai, LQ; Hwang, M; Wang, Z; Yang, Z; Cheng, R; Gatti, RA
      New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

      HUMAN MUTATION
    38. 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
    39. Papp, J; Raicevic, L; Milasin, J; Dimitrijevic, B; Radulovic, S; Olah, E
      Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families

      ONCOLOGY REPORTS
    40. Laplace-Marieze, V; Presneau, N; Sylvain, V; Kwiatkowski, F; Lortholary, A; Hardouin, A; Bignon, YJ
      Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families

      INTERNATIONAL JOURNAL OF ONCOLOGY
    41. Huopaniemi, L; Rantala, A; Forsius, H; Somer, M; de la Chapelle, A; Alitalo, T
      Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

      EUROPEAN JOURNAL OF HUMAN GENETICS
    42. Steinlein, OK; Stoodt, J; de Vos, RAI; Steur, ENHJ; Wevers, A; Schutz, U; Schroder, H
      Mutation screening of the CHRNA4 and CHRNB2 nicotinic cholinergic receptorgenes in Alzheimer's disease

      NEUROREPORT
    43. Lee-Chen, GJ; Tai, DY; Chu, CH; Teng, YN
      Romano-Ward long QT syndrome: Identification of a HERG mutation in a Taiwanese kindred

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    44. Peeters, AV; Thiart, R; de Villiers, JNP; Jensen, HK; Van Gaal, LF; Kotze, MJ
      Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

      MOLECULAR AND CELLULAR PROBES
    45. Payne, AM; Downes, SM; Bessant, DAR; Plant, C; Moore, T; Bird, AC; Bhattacharya, SS
      Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

      JOURNAL OF MEDICAL GENETICS
    46. Lako, M; Ramsden, S; Campbell, RD; Strachan, T
      Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

      JOURNAL OF MEDICAL GENETICS
    47. Bunge, S; Knigge, A; Steglich, C; Kleijer, WJ; van Diggelen, OP; Beck, M; Gal, A
      Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novelalpha-N-acetylglucosaminidase gene mutations

      JOURNAL OF MEDICAL GENETICS
    48. Graham, CA; McClean, E; Ward, AJM; Beattie, ED; Martin, S; O'Kane, M; Young, IS; Nicholls, DP
      Mutation screening and genotype : phenotype correlation in familial hypercholesterolaemia

      ATHEROSCLEROSIS
    49. NISHIGORI H; YAMADA S; KOHAMA T; UTSUGI T; SHIMIZU H; TAKEUCHI T; TAKEDA J
      MUTATIONS IN THE HEPATOCYTE NUCLEAR FACTOR-1-ALPHA GENE (MODY3) ARE NOT A MAJOR CAUSE OF EARLY-ONSET NON-INSULIN-DEPENDENT (TYPE-2) DIABETES-MELLITUS IN JAPANESE

      JOURNAL OF HUMAN GENETICS
    50. Peng, CT; Wu, JY; Tsai, CH; Tsai, FJ; Chang, JG
      Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis

      JOURNAL OF HUMAN GENETICS
    51. WEI WL; KILLEEN AA
      ANALYSIS OF 4 COMMON SALT-WASTING MUTATIONS IN CYP21 (STEROID 21-HYDROXYLASE) BY CLEAVASE FRAGMENT LENGTH POLYMORPHISM ANALYSIS AND CHARACTERIZATION OF A FREQUENT POLYMORPHISM IN INTRON-6

      Molecular diagnosis
    52. KUBISCH C; WICKLEIN EM; JENTSCH TJ
      MOLECULAR DIAGNOSIS OF MCARDLE-DISEASE - REVISED GENOMIC STRUCTURE OFTHE MYOPHOSPHORYLASE GENE AND IDENTIFICATION OF A NOVEL MUTATION

      Human mutation
    53. CORMAND B; GRINBERG D; GORT L; CHABAS A; VILAGELIU L
      MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME

      Human mutation
    54. WILTON SD; HONEYMAN K; FLETCHER S; LAING NG
      SNAPBACK SSCP ANALYSIS - ENGINEERED CONFORMATION CHANGES FOR THE RAPID TYPING OF KNOWN MUTATIONS

      Human mutation
    55. WANGGOHRKE S; HEES S; POCHON A; WEN WH; RELES A; PRESS MF; KREIENBERG R; RUNNEBAUM IB
      GENOMIC SEMIAUTOMATED CYCLE SEQUENCING AS A SENSITIVE SCREENING TECHNIQUE FOR P53 MUTATIONS IN FROZEN TUMOR SAMPLES

      Oncology Reports
    56. KRAUS C; GUNTHER K; VOGLER A; HOHENBERGER W; PFEIFFER RA; BALLHAUSEN WG
      RAPID RT-PCR-BASED PROTEIN TRUNCATION TEST IN THE SCREENING FOR 5' LOCATED MUTATIONS OF THE APC GENE

      Molecular and cellular probes
    57. CALLIS M; JANSEN S; THIART R; DEVILLIERS JNP; RAAL FJ; KOTZE MJ
      MUTATION ANALYSIS IN FAMILIAL HYPERCHOLESTEROLEMIA PATIENTS OF DIFFERENT ANCESTRIES - IDENTIFICATION OF 3 NOVEL LDLR GENE-MUTATIONS

      Molecular and cellular probes
    58. HAGER J; CLEMENT K; FRANCKE S; RAISON J; LAHLOU N; RICH N; PELLOUX V; BASDEVANT A; GUYGRAND B; NORTH M; FROGUEL P
      A POLYMORPHISM IN THE 5'-UNTRANSLATED REGION OF THE HUMAN OB GENE IS ASSOCIATED WITH LOW LEPTIN LEVELS

      International journal of obesity
    59. SORLIE T; ANDERSEN TI; BUKHOLM I; BORRESENDALE AL
      MUTATION SCREENING OF BRCA1 USING PTT AND LOH ANALYSIS AT 17Q21 IN BREAST CARCINOMAS FROM FAMILIAL AND NONFAMILIAL CASES

      Breast cancer research and treatment
    60. DECKERT J; NOTHEN MM; ALBUS M; FRANZEK E; RIETSCHEL M; REN HZ; STILES GL; KNAPP M; WEIGELT B; MAIER W; BECKMANN H; PROPPING P
      ADENOSINE A(1) RECEPTOR AND BIPOLAR AFFECTIVE-DISORDER - SYSTEMATIC SCREENING OF THE GENE AND ASSOCIATION STUDIES

      American journal of medical genetics
    61. Cormand, B; Harboe, TL; Gort, L; Campoy, C; Blanco, M; Chamoles, N; Chabas, A; Vilageliu, L; Grinberg, D
      Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    62. YUAN Y; HAN HJ; ZHENG S; PARK JG
      GERMLINE MUTATIONS OF HMLH1 AND HMSH2 GENES IN PATIENTS WITH SUSPECTED HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER AND SPORADIC EARLY-ONSET COLORECTAL-CANCER

      Diseases of the colon & rectum
    63. NISSEN H; LESTAVEL S; HANSEN TS; LUC G; BRUCKERT E; CLAVEY V
      MUTATION SCREENING OF THE LDLR GENE AND APO-B GENE IN PATIENTS WITH APHENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA AND NORMAL VALUES IN A FUNCTIONAL LDL RECEPTOR APOLIPOPROTEIN-B ASSAY

      Clinical genetics
    64. PONJAVIC V; ABRAHAMSON M; ANDREASSON S; EHINGER B; FEX G
      AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITH A RHODOPSIN MUTATION (ARG-135-TRP) - DISEASE PHENOTYPE IN A SWEDISH FAMILY

      Acta ophthalmologica Scandinavica
    65. STOILOVA D; CHILD A; BRICE G; CRICK RP; FLECK BW; SARFARAZI M
      IDENTIFICATION OF A NEW TIGR MUTATION IN A FAMILY WITH JUVENILE-ONSETPRIMARY OPEN-ANGLE GLAUCOMA

      Ophthalmic genetics
    66. PONJAVIC V; ABRAHAMSON M; ANDREASSON S; EHINGER B; FEX G; POLLAND W
      A MILD PHENOTYPE OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS ASSOCIATED WITH THE RHODOPSIN MUTATION PRO-267-LEU

      Ophthalmic genetics
    67. BUNGE S; INCE H; STEGLICH C; KLEIJER WJ; BECK M; ZAREMBA J; VANDIGGELEN OP; WEBER B; HOPWOOD JJ; GAL A
      IDENTIFICATION OF 16 SULFAMIDASE GENE-MUTATIONS INCLUDING THE COMMON R74C IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO-A)

      Human mutation
    68. HAYWARD C; PORTEOUS ME; BROCK DJH
      MUTATION SCREENING OF ALL 65 EXONS OF THE FIBRILLIN-1 GENE IN 60 PATIENTS WITH MARFAN-SYNDROME - REPORT OF 12 NOVEL MUTATIONS

      Human mutation
    69. AXTON RA; HANSON IM; LOVE J; SEAWRIGHT A; PROSSER J; VANHEYNINGEN V
      COMBINED SSCP HETERODUPLEX ANALYSIS IN THE SCREENING FOR PAX6 MUTATIONS/

      Molecular and cellular probes
    70. ROSSETTI S; ENGLISCH S; BRESIN E; PIGNATTI PF; TURCO AE
      DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)

      Molecular and cellular probes
    71. NAGAO M
      A SIMPLE AND RAPID POLYMERASE CHAIN REACTION-BASED METHOD FOR DETECTING A PREVALENT MUTATION (R413P) IN JAPANESE PHENYLKETONURIA PATIENTS

      Acta Paediatrica Japonica Overseas Edition
    72. FORSELL C; FROELICH S; AXELMAN K; VESTLING M; COWBURN RF; LILIUS L; JOHNSTON JA; ENGVALL B; JOHANSSON K; DAHLKILD A; INGELSON M; STGEORGEHYSLOP PH; LANNFELT L
      A NOVEL PATHOGENIC MUTATION (LEU262PHE) FOUND IN THE PRESENILIN-1 GENE IN EARLY-ONSET ALZHEIMERS-DISEASE

      Neuroscience letters
    73. DEKOK JB; VANSOLINGE WW; RUERS TJM; ROELOFS RWHM; VANMUIJEN GNP; WILLEMS JL; SWINKELS DW
      DETECTION OF TUMOR DNA IN SERUM OF COLORECTAL-CANCER PATIENTS

      Scandinavian journal of clinical & laboratory investigation
    74. MORRAL N; DORK T; LLEVADOT R; DZIADEK V; MERCIER B; FEREC C; COSTES B; GIRODON E; ZIELENSKI J; TSUI LC; TUMMLER B; ESTIVILL X
      HAPLOTYPE ANALYSIS OF 94 CYSTIC-FIBROSIS MUTATIONS WITH 7 POLYMORPHICCFTR DNA MARKERS

      Human mutation
    75. BLANCH LC; MEANEY C; MORRIS CP
      A SENSITIVE MUTATION SCREENING STRATEGY FOR FABRY DISEASE - DETECTIONOF 9 MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE

      Human mutation
    76. STEEN VM; GULBRANDSEN AK; EIKEN HG; BERLE JO
      LACK OF GENETIC-VARIATION IN THE CODING REGION OF THE MYOINOSITOL MONOPHOSPHATASE GENE IN LITHIUM-TREATED PATIENTS WITH MANIC-DEPRESSIVE ILLNESS

      Pharmacogenetics
    77. MADSEN KM; HASHOLT L; SORENSEN SA; VANLOO A; VANHOLDER R
      THE UTILITY OF SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS - RESULTS OBTAINED IN FAMILIES WITH FABRYS-DISEASE

      Scandinavian journal of clinical & laboratory investigation
    78. ROSSETTI S; CORRA S; BIASI MO; TURCO AE; PIGNATTI PF
      COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES

      Molecular and cellular probes
    79. FORSELL C; LANNFELT L
      AMYLOID PRECURSOR PROTEIN MUTATION AT CODON-713 (ALA-]VAL) DOES NOT CAUSE SCHIZOPHRENIA - NONPATHOGENIC VARIANT FOUND AT CODON-705 (SILENT)

      Neuroscience letters
    80. GREIL I; WAGNER K; EBER E; ZACH M; ROSENKRANZ W
      MOLECULAR AND CLINICAL FINDINGS IN AUSTRI AN CYSTIC-FIBROSIS PATIENTSWITH MUTATIONS IN EXON 11 OF THE CFTR GENE

      Wiener Klinische Wochenschrift
    81. GESSLER M; KONIG A; ARDEN K; GRUNDY P; ORKIN S; SALLAN S; PETERS C; RUYLE S; MANDELL J; LI F; CAVENEE W; BRUNS G
      INFREQUENT MUTATION OF THE WT1 GENE IN 77 WILMS-TUMORS

      Human mutation
    82. RAVNIKGLAVAC M; GLAVAC D; CHERNICK M; DISANTAGNESE P; DEAN M
      SCREENING FOR CF MUTATIONS IN ADULT CYSTIC-FIBROSIS PATIENTS WITH A DIRECTED AND OPTIMIZED SSCP STRATEGY

      Human mutation
    83. NUYTINCK L; DEPAEPE A; RENARD JP; ADRIAENS F; LEROY J
      SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS OF THE COL3A1GENE DETECTS A MUTATION THAT RESULTS IN THE SUBSTITUTION OF GLYCINE-1009 TO VALINE AND CAUSES SEVERE EHLERS-DANLOS SYNDROME TYPE-IV

      Human mutation
    84. SCHWAAB R; OLDENBURG J; BRACKMANN HH; HANFLAND P
      HEMOPHILIA-A - MOLECULAR-BIOLOGY AND CARR IER DIAGNOSIS

      Infusionstherapie und Transfusionsmedizin


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Documento generato il 24/01/21 alle ore 03:54:02