Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'GENETIC-DISORDERS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 78 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Abbeduto, L; Evans, J; Dolan, T
      Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    2. Byers, PH
      Folding defects in fibrillar collagens

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    3. Cadet, E; Warin, R; Perez, AS; Rochette, J; Capron, D
      The rusty genotypes

      M S-MEDECINE SCIENCES
    4. Qureshi, N; Standen, PJ; Hapgood, R; Hayes, J
      A randomized controlled trial to assess the psychological impact of a family history screening questionnaire in general practice

      FAMILY PRACTICE
    5. Shastry, BS
      Molecular genetics of Rett syndrome

      NEUROCHEMISTRY INTERNATIONAL
    6. Becker, SM; Al Halees, Z; Molina, C; Paterson, RM
      Consanguinity and congenital heart disease in Saudi Arabia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Jansen, LA; Ross, LF
      The ethics of preadoption genetic testing

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Rittler, M; Liascovich, R; Lopez-Camelo, J; Castilla, EE
      Parental consanguinity in specific types of congenital anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Gregersen, N; Bross, P; Andresen, BS; Pedersen, CB; Corydon, TJ; Bolund, L
      The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders

      JOURNAL OF INHERITED METABOLIC DISEASE
    10. Harkonen, K; Suominen, J; Lahdetie, J
      Aneuploidy in spermatozoa of infertile men with teratozoospermia

      INTERNATIONAL JOURNAL OF ANDROLOGY
    11. Clark, AJL; Metherell, L; Swords, FM; Elias, LLK
      The molecular pathogenesis of ACTH insensitivity syndromes

      ANNALES D ENDOCRINOLOGIE
    12. Levy, HL; Albers, S
      Genetic screening of newborns

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    13. Kerckaert, I; Poll-The, BT; Espeel, M; Duran, M; Roeleveld, ABC; Wanders, RJA; Roels, F
      Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    14. Levo, A; Kuismanen, K; Holopainen, P; Vahtera, E; Rasi, V; Krusius, T; Partanen, J
      Single founder mutation (W380G) in type II protein C deficiency in Finland

      THROMBOSIS AND HAEMOSTASIS
    15. Weiske, WH; Salzler, N; Schroeder-Printzen, I; Weidner, W
      Clinical findings in congenital absence of the vasa deferentia

      ANDROLOGIA
    16. Werrlein, RJ; Madren-Whalley, JS
      Effects of sulfur mustard on the basal cell adhesion complex

      JOURNAL OF APPLIED TOXICOLOGY
    17. Werrlein, RJ; Madren-Whalley, JS
      Effects of sulfur mustard on the basal cell adhesion complex

      JOURNAL OF APPLIED TOXICOLOGY
    18. Mercatante, D; Kole, R
      Modification of alternative splicing pathways as a potential approach to chemotherapy

      PHARMACOLOGY & THERAPEUTICS
    19. Murphy, SK; Jirtle, RL
      Imprinted genes as potential genetic and epigenetic toxicologic targets

      ENVIRONMENTAL HEALTH PERSPECTIVES
    20. Onwochei, BC; Simon, JW; Bateman, JB; Couture, KC; Mir, E
      Ocular colobomata

      SURVEY OF OPHTHALMOLOGY
    21. Dworakowska, B; Dolowy, K
      Ion channels-related diseases

      ACTA BIOCHIMICA POLONICA
    22. Carneol, SO; Marks, SM; Weik, LA
      The speech-language pathologist: Key role in the diagnosis of velocardiofacial syndrome

      AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
    23. Suchard, MA; Yudkin, P; Sinsheimer, JS; Fowler, GH
      General practitioners' views on genetic screening for common diseases

      BRITISH JOURNAL OF GENERAL PRACTICE
    24. Palitti, F; Pichierri, P; Franchitto, A; De Santis, LP; Mosesso, P
      Chromosome radiosensitivity in human G2 lymphocytes and cell-cycle progression

      INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
    25. Bouzat, C; Barrantes, FJ
      Inherited and experimentally induced changes in gating kinetics of muscle nicotinic acetylcholine receptor

      JOURNAL OF MOLECULAR NEUROSCIENCE
    26. Tadmouri, GO; Bissar-Tadmouri, N
      Genetic disorders in Arabs as for OMIM (TM)

      SAUDI MEDICAL JOURNAL
    27. Moseley, RH; Hoglund, P; Wu, GD; Silberg, DG; Haila, S; De la Chapelle, A; Holmberg, C; Kere, J
      Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

      AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
    28. Palu, G; Bonaguro, R; Marcello, A
      In pursuit of new developments for gene therapy of human diseases

      JOURNAL OF BIOTECHNOLOGY
    29. McMullin, MF
      The molecular basis of disorders of the red cell membrane

      JOURNAL OF CLINICAL PATHOLOGY
    30. NOGUEIRA CR; LEITE CC; CHEDID EPT; LIBERMAN B; PIMENTEL FR; KOPP P; MEDEIROSNETO GA
      AUTOSOMAL RECESSIVE DEFICIENCY OF COMBINED PITUITARY-HORMONES (EXCEPTACTH) IN A CONSANGUINEOUS BRAZILIAN KINDRED

      Journal of endocrinological investigation
    31. SHASTRY BS
      LIGHT, SIGHT AND FIGHT FOR INSIGHT

      Biochimie
    32. Fink, JK
      Approach to patients with inherited neurologic disorders

      SEMINARS IN NEUROLOGY
    33. MAVROU A; METAXOTOU C; TRICHOPOULOS D
      AWARENESS AND USE OF PRENATAL-DIAGNOSIS AMONG GREEK WOMEN - A NATIONAL SURVEY

      Prenatal diagnosis
    34. LALOUSCHEK W; AULL S; KORNINGER L; MANNHALTER C; PABINGERFASCHING I; SCHMID RW; SCHNIDER P; ZEILER K
      677C TO 677T MUTATION IN THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE(MTHFR) GENE AND PLASMA HOMOCYST(E)INE LEVELS IN PATIENTS WITH TIA ORMINOR STROKE

      Journal of the neurological sciences
    35. ECKEL HE; RICHLING F; STREPPEL M; ROTH B; WALGER M; ZOROWKA P
      ETIOLOGY OF PROFOUND HEARING DISORDERS IN CHILDREN

      HNO. Hals-, Nasen-, Ohrenarzte
    36. CLARK AG
      MUTATION-SELECTION BALANCE WITH MULTIPLE ALLELES

      Genetica
    37. CNOSSEN MH; DEGOEDEBOLDER A; VANDENBROEK KM; WAASDORP CME; ORANJE AP; STROINK H; SIMONSZ HJ; VANDENOUWELAND AMW; HALLEY DJJ; NIERMEIJER MF
      A PROSPECTIVE 10-YEAR FOLLOW-UP-STUDY OF PATIENTS WITH NEUROFIBROMATOSIS TYPE-1

      Archives of Disease in Childhood
    38. RIGHETTI PG; GELFI C
      ANALYSIS OF CLINICALLY RELEVANT, DIAGNOSTIC DNA BY CAPILLARY ZONE ANDDOUBLE-GRADIENT GEL SLAB ELECTROPHORESIS

      Journal of chromatography
    39. CLERICI G; DONTI E; ZACUTTI A; DIRENZO GC
      PRENATAL-DIAGNOSIS IN ITALY

      European journal of human genetics
    40. NOGUEIRA CR; LEITE CC; CHEDID EPT; LIBERMAN B; PIMENTELFILHO FR; KOPP P; MEDEIROSNETO GA
      AUTOSOMAL RECESSIVE DEFICIENCY OF COMBINED PITUITARY-HORMONES (EXCEPTACTH) IN A CONSANGUINEOUS BRAZILIAN KINDRED

      Journal of endocrinological investigation
    41. WIEACKER P; JAKUBICZKA S
      GENETIC CAUSES OF MALE-INFERTILITY

      Andrologia
    42. RIGHETTI PG; GELFI C
      CAPILLARY ELECTROPHORESIS OF DNA FOR MOLECULAR DIAGNOSTICS

      Electrophoresis
    43. SPROSTON ARM; WEST CML; HENDRY JH
      CELLULAR RADIO SENSITIVITY IN HUMAN SEVERE-COMBINED-IMMUNODEFICIENCY (SCID) SYNDROMES

      Radiotherapy and oncology
    44. WOOLF CM
      DOES THE GENOTYPE FOR SCHIZOPHRENIA OFTEN REMAIN UNEXPRESSED BECAUSE OF CANALIZATION AND STOCHASTIC EVENTS DURING DEVELOPMENT

      Psychological medicine
    45. LI K; ZHANG J; BUVOLI M; YAN XD; LEINWAND L; HE H
      OCHRE SUPPRESSOR TRANSFER-RNA RESTORED DYSTROPHIN EXPRESSION IN MDX MICE

      Life sciences
    46. RAMAEKERS VT; HEIMANN G; REUL J; THRON A; JAEKEN J
      GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD

      Brain
    47. VALDES AM; THOMSON G
      DETECTING DISEASE-PREDISPOSING VARIANTS - THE HAPLOTYPE METHOD

      American journal of human genetics
    48. VALDES AM; MCWEENEY S; THOMSON G
      HLA CLASS-II DR-DQ AMINO-ACIDS AND INSULIN-DEPENDENT DIABETES-MELLITUS - APPLICATION OF THE HAPLOTYPE METHOD

      American journal of human genetics
    49. BURNET NG; WURM R; PEACOCK JH
      LOW DOSE-RATE FIBROBLAST RADIOSENSITIVITY AND THE PREDICTION OF PATIENT RESPONSE TO RADIOTHERAPY

      International journal of radiation biology
    50. FUCHS E
      GENETIC-DISORDERS OF KERATINS AND THEIR ASSOCIATED PROTEINS

      Journal of dermatological science
    51. ABLON J
      GENDER RESPONSE TO NEUROFIBROMATOSIS .1.

      Social science & medicine
    52. ALHUSAIN MA
      MAJOR CHROMOSOMAL-ANOMALIES IN CHILDREN REFERRED FOR SUSPECTED CHROMOSOME-ABERRATIONS - A REPORT OF 1,327 CASES

      Medical science research
    53. TUCKER SL; GEARA FB; PETERS LJ; BROCK WA
      HOW MUCH COULD THE RADIOTHERAPY DOSE BE ALTERED FOR INDIVIDUAL PATIENTS BASED ON A PREDICTIVE ASSAY OF NORMAL-TISSUE RADIOSENSITIVITY

      Radiotherapy and oncology
    54. THOMPSON NM; ROGENESS GA; MCCLURE E; CLAYTON R; JOHNSON C
      INFLUENCE OF DEPRESSION ON COGNITIVE-FUNCTIONING IN FRAGILE-X FEMALES

      Psychiatry research
    55. BRAMBS HJ
      DEVELOPMENTAL ANOMALIES AND CONGENITAL DI SORDERS OF THE PANCREAS

      Radiologe
    56. AVELDANO MI; DONNARI D
      PLASMA PHOSPHOLIPID FATTY-ACIDS IN X-LINKED ADRENOLEUKODYSTROPHY

      Clinical chemistry
    57. MURER H; BIBER J
      MOLECULAR MECHANISMS IN RENAL PHOSPHATE REABSORPTION

      Nephrology, dialysis, transplantation
    58. REED DR; DING Y; XU W; CATHER C; PRICE RA
      HUMAN OBESITY DOES NOT SEGREGATE WITH THE CHROMOSOMAL REGIONS OF PRADER-WILLI, BARDET-BIEDL, COHEN, BORJESON OR WILSON-TURNER SYNDROMES

      International journal of obesity
    59. MAUNE S; RATH NF; GOROGH T; STEINERT R
      GENETIC PREDISPOSITION TO CHRONIC POLYPOI D SINUSITIS AND DEFICIENCY TYPES OF ALPHA-1-PROTEASE INHIBITOR

      HNO. Hals-, Nasen-, Ohrenarzte
    60. JEZEQUEL P; DORVAL I; FERGELOT P; CHAUVEL B; LETREUT A; LEGALL JY; LELANNOU D; BLAYAU M
      STRUCTURAL-ANALYSIS OF CFTR GENE IN CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS

      Clinical chemistry
    61. MONTERO C; DULEY JA; FAIRBANKS LD; MCBRIDE MB; MICHELI V; CANT AJ; MORGAN G
      DEMONSTRATION OF INDUCTION OF ERYTHROCYTE INOSINE MONOPHOSPHATE DEHYDROGENASE-ACTIVITY IN RIBAVIRIN-TREATED PATIENTS USING A HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY LINKED METHOD

      Clinica chimica acta
    62. BOLTON RG
      THE ETHICS OF GENE-THERAPY

      Journal of the Royal Society of Medicine
    63. KOTOVSKAYA ES; SCHALAEVA MY; MAZAEV VP; POPOV YM; ZAIKIN EV
      ON THE PROBLEM OF MYOCARDIAL BRIDGES

      Kardiologia
    64. SCHREIBER WE; FONG F; JAMANI A
      MOLECULAR DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA BY ANALYSIS OF DNA EXTRACTED FROM HAIR ROOTS

      Clinical chemistry
    65. GUNERAL F; BACHMANN C
      AGE-RELATED REFERENCE VALUES FOR URINARY ORGANIC-ACIDS IN A HEALTHY TURKISH PEDIATRIC POPULATION

      Clinical chemistry
    66. SYVANEN AC
      DETECTION OF POINT MUTATIONS IN HUMAN GENES BY THE SOLID-PHASE MINISEQUENCING METHOD

      Clinica chimica acta
    67. SMITH JA; FANN JI; MILLER DC; MOORE KA; DEANDA A; MITCHELL RS; STINSON EB; OYER PE; REITZ BA; SHUMWAY NE
      SURGICAL-MANAGEMENT OF AORTIC DISSECTION IN PATIENTS WITH THE MARFAN-SYNDROME

      Circulation
    68. ONAT A; DURSUNOGLU D; AKTUGLU G
      HOMOZYGOUS FACTOR-X DEFICIENCY ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLEMIA, MITRAL-VALVE PROLAPSE, AND HYPERTROPHIC CARDIOMYOPATHY

      Acta haematologica
    69. CHERDSHEWASART W; GHARTICHHETRI GB; SAUL MW; JACOBS M; NEGRUTIU I
      EXPRESSION INSTABILITY AND GENETIC-DISORDERS IN TRANSGENIC NICOTIANA-PLUMBAGINIFOLIA L PLANTS

      Transgenic research
    70. BEGG AC; RUSSELL NS; KNAKEN H; LEBESQUE JV
      LACK OF CORRELATION OF HUMAN FIBROBLAST RADIOSENSITIVITY IN-VITRO WITH EARLY SKIN REACTIONS IN PATIENTS UNDERGOING RADIOTHERAPY

      International journal of radiation biology
    71. RAO KS
      GENOMIC DAMAGE AND ITS REPAIR IN YOUNG AND AGING BRAIN

      Molecular neurobiology
    72. TRAPNELL BC
      ADENOVIRAL VECTORS FOR GENE-TRANSFER

      Advanced drug delivery reviews
    73. JOHNSTON K; AARONS R; SCHELLEY S; HOROUPIAN D
      JOINT CONTRACTURES, HYPERKERATOSIS, AND SEVERE HYPOPLASIA OF THE POSTERIOR COLUMNS - A NEW RECESSIVE SYNDROME

      American journal of medical genetics
    74. BRUGGE KL; GROVE GL; CLOPTON P; GROVE MJ; PIACQUADIO DJ
      EVIDENCE FOR ACCELERATED SKIN WRINKLING AMONG DEVELOPMENTALLY DELAYEDINDIVIDUALS WITH DOWNS-SYNDROME

      Mechanism of ageing and development
    75. NAKAMURA N; SPOSTO R; AKIYAMA M
      DOSE SURVIVAL OF G(0) LYMPHOCYTES IRRADIATED IN-VITRO - A TEST FOR A POSSIBLE POPULATION BIAS IN THE COHORT OF ATOMIC-BOMB SURVIVORS EXPOSED TO HIGH-DOSES

      Radiation research
    76. BAN S; COLOGNE JB; FUJITA S; AWA AA
      RADIOSENSITIVITY OF ATOMIC-BOMB SURVIVORS AS DETERMINED WITH A MICRONUCLEUS ASSAY

      Radiation research
    77. PRENCE EM; NATOWICZ MR; ZALEWSKI I
      UNUSUAL THERMOLABILITY PROPERTIES OF LEUKOCYTE BETA-HEXOSAMINIDASE - IMPLICATIONS IN SCREENING FOR CARRIERS OF TAY-SACHS-DISEASE

      Clinical chemistry
    78. BROUSSEAU T; FRUCHART JC
      CLASSIFICATION OF GENETIC DYSLIPOPROTEINE MIAS

      Annales de medecine interne


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 20:13:27