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La ricerca find articoli where soggetti phrase all words 'carrier detection' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 185 riferimenti
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    1. Acquila, M; Bottini, F; Valetto, A; Caprino, D; Mori, PG; Bicocchi, MP
      A new strategy for prenatal diagnosis in a sporadic haemophilia B family

      HAEMOPHILIA
    2. Oranwiroon, S; Akkarapatumwong, V; Pung-Amritt, P; Treesucon, A; Veerakul, G; Mahasandana, C; Panyim, S; Yenchitsomanus, P
      Determination of haemophilia A carrier status by mutation analysis

      HAEMOPHILIA
    3. Chtcherbakov, AA; Swart, PL
      Chirped fibre optic Bragg grating strain sensor with sub-carrier phase detection

      MEASUREMENT SCIENCE & TECHNOLOGY
    4. Chowdhury, MR; Kabra, M; Menon, PSN
      Factor IX gene polymorphisms in Indian population

      AMERICAN JOURNAL OF HEMATOLOGY
    5. Oldenburg, J; Kriz, K; Wuillemin, WA; Maly, FE; von Felten, A; Siegemund, A; Keeling, DM; Baker, P; Chu, K; Konkle, BA; Lammle, B; Albert, T
      Genetic predisposition to bleeding during oral anticoagulant therapy: Evidence for common founder mutations (FIXVal-10 and FIXThr-10) and an independent CpG hotspot mutation (FIXThr-10)

      THROMBOSIS AND HAEMOSTASIS
    6. Werneck, LC; Scola, RH; Maegawa, GHB; Werneck, MCM
      Comparative analysis of PCR-deletion detection and immunohistochemistry inBrazilian Duchenne and Becker muscular dystrophy patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Hill, DA; Bodie, JB
      Carrier detection of PSK signals

      IEEE TRANSACTIONS ON COMMUNICATIONS
    8. Jo, EK; Kanegane, H; Nonoyama, S; Tsukada, S; Lee, JH; Lim, K; Shong, M; Song, CH; Kim, HJ; Park, JK; Miyawaki, T
      Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families

      JOURNAL OF IMMUNOLOGY
    9. Futatani, T; Watanabe, C; Baba, Y; Tsukada, S; Ochs, HD
      Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females

      BRITISH JOURNAL OF HAEMATOLOGY
    10. Choi, YM; Hwang, D; Choe, J; Jun, JK; Kim, EJ; Moon, SY; Cho, S
      Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms

      JOURNAL OF HUMAN GENETICS
    11. Holoshitz, N; Kurachi, K; Kurachi, S
      Carrier analysis of a moderately affected haemophilia B family

      HAEMOPHILIA
    12. Sasanakul, W; Chuansumrit, A; Rurgkhum, S; Hathirat, P
      Frequencies of five polymorphisms associated with the factor IX gene in the Thai population

      HAEMOPHILIA
    13. Ashton-Prolla, P; Tong, BZ; Shabbeer, J; Astrin, KH; Eng, CM; Desnick, RJ
      Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

      JOURNAL OF INVESTIGATIVE MEDICINE
    14. Conley, ME; Rohrer, J; Minegishi, Y
      X-linked agammaglobulinemia

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    15. Moschese, V; Orlandi, P; Plebani, A; Arvanitidis, K; Fiorini, M; Speletas, M; Mella, P; Ritis, K; Sideras, P; Finocchi, A; Livadiotti, S; Rossi, P
      X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia

      MOLECULAR MEDICINE
    16. Knoell, KA; Tunnessen, WW
      Picture of the month

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    17. Ligon, AH; Kashork, CD; Richards, CS; Shaffer, LG
      Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Maheshwari, M; R, V; Kabra, M; Arora, S; Shastri, SS; Deka, D; Kriplani, A; Menon, PSN
      Prenatal diagnosis of Duchenne muscular dystrophy

      NATIONAL MEDICAL JOURNAL OF INDIA
    19. Germain, DP
      Fabry disease: clinical and genetic aspects. Therapeutic perspectives

      REVUE DE MEDECINE INTERNE
    20. Shalata, A; Mandel, H; Dorche, C; Zabot, MT; Shalev, S; Hugeirat, Y; Arieh, D; Ronit, Z; Reiss, J; Anbinder, Y; Cohen, N
      Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

      PRENATAL DIAGNOSIS
    21. Yokoyama, Y; Teraoka, M; Tsuji, K; Ninomiya, S; Inoue, C; Yamashita, S; Narahara, K; Seino, Y
      Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase

      AMERICAN JOURNAL OF MEDICAL GENETICS
    22. Kanegane, H; Tsukada, S; Iwata, T; Futatani, T; Nomura, K; Yamamoto, J; Yoshida, T; Agematsu, K; Komiyama, A; Miyawaki, T
      Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the JapaneseImmunodeficiency Registry

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    23. Gaspar, HB; Conley, ME
      Early B cell defects

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    24. Jang, SJ; Mao, L
      Methylation patterns in human androgen receptor gene and clonality analysis

      CANCER RESEARCH
    25. Lin, SR; Lin, SW; Hsu, YC; Shen, MC
      Identification of a new CA dinucleotide repeat in the human factor VIII gene

      BRITISH JOURNAL OF HAEMATOLOGY
    26. Chan, V; Yam, I; Yip, B; Au, P; Shing, MK; Li, CK; Chan, TK
      Single nucleotide polymorphisms of the factor IX gene for linkage analysisin the southern Chinese population

      BRITISH JOURNAL OF HAEMATOLOGY
    27. Bowen, DJ; De Brasi, CD; Larripa, IB; Collins, PW
      A new polymorphism in the human factor VIII gene: implications for linkageanalysis in haemophilia A and for the evolution of int22h sequences

      BRITISH JOURNAL OF HAEMATOLOGY
    28. Yang, RC; Wang, HY; Han, ZC
      Polymorphisms associated with the factor IX gene in Chinese people

      HAEMOPHILIA
    29. Knobe, KE; Ljung, RCR
      Haemophilia B carrier detection by factor IX : C analysis; no impact of the type of mutation or severity of disorder

      HAEMOPHILIA
    30. Heckel, S; Favre, R; Flori, J; Koenig, M; Mandel, JL; Gasser, B; Chaigne, D
      In utero fetal muscle biopsy: A precious aid for the prenatal diagnosis ofDuchenne muscular dystrophy

      FETAL DIAGNOSIS AND THERAPY
    31. Kramer, K; Cohen, HJ
      Intrauterine fetal diagnosis for hematologic and other congenital disorders

      CLINICS IN LABORATORY MEDICINE
    32. Quartier, P; Debre, M; De Blic, J; de Sauverzac, R; Sayegh, N; Jabado, N; Haddad, E; Blanche, S; Casanova, JL; Smith, CIE; Le Deist, F; de Saint Basille, G; Fischer, A
      Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: A retrospective survey of 31 patients

      JOURNAL OF PEDIATRICS
    33. Alcantara, MA; Villarreal, MT; Del Castillo, V; Gutierrez, G; Saldana, Y; Maulen, I; Lee, R; Macias, M; Orozco, L
      High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling

      CLINICAL GENETICS
    34. De Brasi, CD; Bowen, DJ; Collins, PW; Larripa, IB
      Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR

      BRITISH JOURNAL OF HAEMATOLOGY
    35. Rohrer, J; Conley, ME
      Correction of X-linked immunodeficient mice by competitive reconstitution with limiting numbers of normal bone marrow cells

      BLOOD
    36. Hoffman, EP
      Muscular dystrophy - Identification and use of genes for diagnostics and therapeutics

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    37. LILLICRAP D
      THE MOLECULAR-BASIS OF HEMOPHILIA-B

      Haemophilia
    38. GOODEVE AC
      ADVANCES IN CARRIER DETECTION IN HEMOPHILIA

      Haemophilia
    39. SRIVASTAVA A; CHUANSUMRIT A; CHANDY M; DURAISWAMY G; KARAGUS C
      MANAGEMENT OF HEMOPHILIA IN THE DEVELOPING-WORLD

      Haemophilia
    40. STRAUGHEN JE; JOHNSON J; MCLAREN D; PROYTCHEVA M; ELLIS N; GERMAN J; GRODEN J
      A RAPID METHOD FOR DETECTING THE PREDOMINANT ASHKENAZI JEWISH MUTATION IN THE BLOOMS-SYNDROME GENE

      Human mutation
    41. MAUGARD C; TUFFERY S; AGUILARMARTINEZ P; SCHVED JF; GRIS JC; DEMAILLE J; CLAUSTRES M
      PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS

      Human mutation
    42. MAUGARD C; TUFFERY S; AGUILARMARTINEZ P; SCHVED JF; GRIS JC; DEMAILLE J; CLAUSTRES M
      PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS

      Human mutation
    43. TANNER SM; LAPORTE J; GUIRAUDCHAUMEIL C; LIECHTIGALLATI S
      CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE

      Human mutation
    44. TANNER SM; LAPORTE J; GUIRAUDCHAUMEIL C; LIECHTIGALLATI S
      CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE

      Human mutation
    45. Cao, A; Galanello, R; Rosatelli, MC
      Prenatal diagnosis and screening of the haemoglobinopathies

      BAILLIERES CLINICAL HAEMATOLOGY
    46. MCGRATH JA; HANDYSIDE AH
      PREIMPLANTATION GENETIC DIAGNOSIS OF SEVERE INHERITED SKIN DISEASES

      Experimental dermatology
    47. CLARKE RA; GOOZEE GR; BIRRELL G; FANG ZM; HASNAIN H; LAVIN M; KEARSLEY JH
      ABSENCE OF ATM TRUNCATIONS IN PATIENTS WITH SEVERE ACUTE RADIATION REACTIONS

      International journal of radiation oncology, biology, physics
    48. OCHS HD
      THE WISKOTT-ALDRICH-SYNDROME

      Perspectives in mathematical logic
    49. TUFFERY S; CHAMBERT S; BAREIL C; SARDA P; COUBES C; ECHENNE B; DEMAILLE J; CLAUSTRES M
      MUTATION ANALYSIS OF THE DYSTROPHIN GENE IN SOUTHERN FRENCH DMD OR BMD FAMILIES - FROM SOUTHERN BLOT TO PROTEIN TRUNCATION TEST

      Human genetics
    50. FREDRIKSON GN; GULLSTRAND B; WESTBERG J; SJOHOLM AG; UHLEN M; TRUEDSSON L
      EXPRESSION OF PROPERDIN IN COMPLETE AND INCOMPLETE DEFICIENCY - NORMAL IN-VITRO SYNTHESIS BY MONOCYTES IN 2 CASES WITH PROPERDIN DEFICIENCYTYPE-II DUE TO DISTINCT MUTATIONS

      Journal of clinical immunology
    51. SHEN JJ; LIU HM; MCCONKIEROSELL A; CHEN YT
      PRENATAL-DIAGNOSIS AND CARRIER DETECTION FOR GLYCOGEN-STORAGE-DISEASETYPE-III USING POLYMORPHIC DNA MARKERS

      Prenatal diagnosis
    52. MURDOCHKINCH CA; BIXLER D; WARD RE
      CEPHALOMETRIC ANALYSIS OF FAMILIES WITH DOMINANTLY INHERITED CROUZON-SYNDROME - AN AID TO DIAGNOSIS IN FAMILY STUDIES

      American journal of medical genetics
    53. ALLINGHAMHAWKINS DJ; MCGLYNNSTEELE LK; BROWN CA; SUTHERLAND J; RAY PN
      IMPACT OF CARRIER STATUS DETERMINATION FOR DUCHENNE BECKER MUSCULAR-DYSTROPHY BY COMPUTER-ASSISTED LASER DENSITOMETRY/

      American journal of medical genetics
    54. GOODEVE AC
      LABORATORY METHODS FOR THE GENETIC DIAGNOSIS OF BLEEDING DISORDERS

      Clinical and laboratory haematology
    55. MISCHLER EH; WILFOND BS; FOST N; LAXOVA A; REISER C; SAUER CM; MAKHOLM LM; SHEN GH; FEENAN L; MCCARTHY C; FARRELL PM
      CYSTIC-FIBROSIS NEWBORN SCREENING - IMPACT ON REPRODUCTIVE-BEHAVIOR AND IMPLICATIONS FOR GENETIC-COUNSELING

      Pediatrics (Evanston)
    56. ABKOWITZ JL; TABOADA M; SHELTON GH; CATLIN SN; GUTTORP P; KIKLEVICH JV
      AN X-CHROMOSOME GENE REGULATES HEMATOPOIETIC STEM-CELL KINETICS

      Proceedings of the National Academy of Sciences of the United Statesof America
    57. HUSSAIN T; KUMAR DVN; SUNDARAM C; MOHANDAS S; ANANDARAJ MPJS
      QUANTITATIVE ELISA FOR PLATELET M-CALPAIN - A PHENOTYPIC INDEX FOR DETECTION OF CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY

      Clinica chimica acta
    58. CONLEY ME; MATHIAS D; TREADAWAY J; MINEGISHI Y; ROHRER J
      MUTATIONS IN BTK IN PATIENTS WITH PRESUMED X-LINKED AGAMMAGLOBULINEMIA

      American journal of human genetics
    59. TODOROVA A; DANIELI GA
      LARGE MAJORITY OF SINGLE-NUCLEOTIDE MUTATIONS ALONG THE DYSTROPHIN GENE CAN BE EXPLAINED BY MORE THAN ONE MECHANISM OF MUTAGENESIS

      Human mutation
    60. LUNDSTEEN C; VEJERSLEV LO
      PRENATAL-DIAGNOSIS IN DENMARK

      European journal of human genetics
    61. MORI PG; CAPRINO D; BICOCCHI MP; VALETTO A; BOTTINI F; AQUILA M
      INVERSION MUTATION AS A MAJOR CAUSE OF SEVERE HEMOPHILIA-A IN ITALIANPATIENTS

      Haematologica
    62. SHETTY S; GHOSH K; PATHARE A; COLAH R; BADAKARE S; MOHANTY D
      FACTOR-VIII AND FACTOR-IX GENE POLYMORPHISMS AND CARRIER ANALYSIS IN INDIAN POPULATION

      American journal of hematology
    63. KWIATKOWSKA J; LISIECKA D; SOWINSKA J; MARSZAL E; EMICHWIDERA E; CIESIELSKI T; SZCZEGOLAPRZYMUSIAK A; NUC P; CHLEBOWSKA H; ZIMOWSKI J; GALASZGORZALEWICZ B; SLOMSKI R
      DELETION SCREENING AND CARRIER DETECTION IN DUCHENNE MUSCULAR-DYSTROPHY IN POLISH POPULATION VIA DIRECT ANALYSIS OF DNA AND RNA TRANSCRIPTS

      Biochimie
    64. ENDREFFY E; LASZLO A; SZABO A; ROMAN F; KURII K; KALMAN M; RASKO I
      MOLECULAR-GENETIC STUDIES IN MONOGENIC AND POLYGENIC HUMAN-DISEASES

      Acta biologica Hungarica
    65. MORRONE A; ZAMMARCHI E; SCACHERI PC; DONATI MA; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
      ASYMPTOMATIC DYSTROPHINOPATHY

      American journal of medical genetics
    66. AUSEMS MGEM; BAKKER E; BERGER R; DURAN M; VANDIGGELEN OP; KEULEMANS JLM; DEVALK HW; KNEPPERS ALJ; DORLAND L; ESKES PF; BEEMER FA; POLLTHE BT; SMEITINK JAM
      ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY

      American journal of medical genetics
    67. GIBSON KM; HOFFMANN GF; SWEETMAN L; BUCKINGHAM B
      MEVALONATE KINASE-DEFICIENCY IN A DIZYGOTIC TWIN WITH MILD MEVALONIC ACIDURIA

      Journal of inherited metabolic disease
    68. WENGLER GS; PAROLINI O; FIORINI M; MELLA P; SMITH H; UGAZIO AG; NOTARANGELO LD
      A PCR-BASED NONRADIOACTIVE X-CHROMOSOME INACTIVATION ASSAY FOR GENETIC-COUNSELING IN X-LINKED PRIMARY IMMUNODEFICIENCIES

      Life sciences
    69. SHASTRY BS; HEJTMANCIK JF; RODRIGUEZ A; RODRIGUEZ F; TAMAYO ML
      LINKAGE MAPPING OF A LARGE COLOMBIAN FAMILY SEGREGATING FOR X-LINKED RETINOSCHISIS - REFINEMENT OF THE CHROMOSOMAL LOCATION

      Journal of Medical Genetics
    70. FRANCO RF; ARAUJO AG; ZAGO MA; GUERREIRO JF; FIGUEIREDO MS
      FACTOR-IX GENE HAPLOTYPES IN AMERINDIANS

      Human biology
    71. GREENEDAVIS ST; NEUMANN PE; MANN OE; MOSS MA; SCHREIBER WE; WELCH JP; LANGLEY GR; SANGALANG VE; DEMPSEY GI; NASSAR BA
      DETECTION OF A R173W MUTATION IN THE PORPHOBILINOGEN DEAMINASE GENE IN THE NOVA-SCOTIAN FOREIGN PROTESTANT POPULATION WITH ACUTE INTERMITTENT PORPHYRIA - A FOUNDER EFFECT

      Clinical biochemistry
    72. DANGERFIELD BTF; MANGA P; FIELD SP; HARTMAN E; JENKINS T; KRAUSE A
      FEASIBILITY OF PRENATAL-DIAGNOSIS AND CARRIER DETECTION IN SOUTH-AFRICAN HEMOPHILIA-A PATIENTS

      British Journal of Haematology
    73. PAROLINI O; BERARDELLI S; RIEDL E; BELLOFERNANDEZ C; STROBL H; MAJDIC O; KNAPP W
      EXPRESSION OF WISKOTT-ALDRICH SYNDROME PROTEIN (WASP) GENE DURING HEMATOPOIETIC DIFFERENTIATION

      Blood
    74. SHCHEGLOV AY
      ACCELERATED PROBING OF THE DATA CHANNEL - A NEW MULTIPLE-ACCESS PRINCIPLE IN LOCAL-AREA NETWORKS

      Journal of computer & systems sciences international
    75. GOODEVE AC; TAGARIELLO G; CHUANSUMRIT A; PRESTON FE; PEAKE IR
      A RAPID AND COST-EFFECTIVE METHOD FOR ANALYSIS OF DINUCLEOTIDE REPEATPOLYMORPHISMS IN THE FACTOR-VIII GENE

      Blood coagulation & fibrinolysis
    76. LJUNG RCR
      PRENATAL-DIAGNOSIS OF HEMOPHILIA

      Bailliere's clinical haematology
    77. TSUKAMOTO H; INUI K; FUKUSHIMA H; OKADA S
      ALLELE FREQUENCIES OF INTRAGENIC, AND 5'-MARKER AND 3'-MARKER OF THE DYSTROPHIN GENE IN JAPANESE FAMILIES AFFLICTED WITH DUCHENNE OR BECKERMUSCULAR-DYSTROPHY

      Japanese journal of human genetics
    78. PASTORE L; CAPORASO MG; FRISSO G; ORSINI A; SANTORO L; SACCHETTI L; SALVATORE F
      A QUANTITATIVE POLYMERASE CHAIN-REACTION (PCR) ASSAY COMPLETELY DISCRIMINATES BETWEEN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY DELETION CARRIERS AND NORMAL FEMALES

      Molecular and cellular probes
    79. MEINI A; PLEBANI A; RUGGERI L; CRISPINO P; NOTARANGELO LD; DUSE M; UGAZIO AG
      X-LINKED AGAMMAGLOBULINEMIA - STATUS OF T HE ART

      Rivista italiana di pediatria
    80. YOUNG JH; WANG JC; GAU JP; HU HT
      PRENATAL AND MOLECULAR DIAGNOSIS OF HEMOPHILIA-B

      American journal of hematology
    81. CAMUS P; ABBADI N; PERRIER MC; CHERY M; GILGENKRANTZ S
      X-CHROMOSOME INACTIVATION IN 30 GIRLS WITH RETT-SYNDROME - ANALYSIS USING THE PROBE

      Human genetics
    82. ARENAS D; CORAL R; CISNEROS B; PENALOZA L; SALAMANCA F; KOFMAN S; MERCADO R; MENDEZ J; MARTINEZ C; MONTANEZ C
      CARRIER DETECTION IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY USING DINUCLEOTIDE REPEAT POLYMORPHISMS - A STUDY IN MEXICAN FAMILIES

      Archives of medical research
    83. PRENCE EM; ZALEWSKI I; NATOWICZ MR
      UNUSUAL THERMOLABILITY PROPERTIES OF BETA-HEXOSAMINIDASE - STUDIES OFENZYME FROM CULTURED-CELLS AND CLINICAL IMPLICATIONS

      American journal of medical genetics
    84. ORSTAVIK KH; ORSTAVIK RE; EIKLID K; TRANEBJAERG L
      INHERITANCE OF SKEWED X-CHROMOSOME INACTIVATION IN A LARGE FAMILY WITH AN X-LINKED RECESSIVE DEAFNESS SYNDROME

      American journal of medical genetics
    85. GEDEON AK; KOZMAN HM; ROBINSON H; PILIA G; SCHLESSINGER D; TURNER G; MULLEY JC
      REFINEMENT OF THE BACKGROUND GENETIC-MAP OF XQ26-Q27 AND GENE LOCALIZATION FOR BORJESON-FORSSMAN-LEHMANN SYNDROME

      American journal of medical genetics
    86. FRANCO RF; GUERREIRO JF; ZAGO MA; FIGUEIREDO MS
      FACTOR-VIII GENE POLYMORPHISMS IN AMERINDIANS FROM THE BRAZILIAN AMAZON REGION

      Brazilian journal of genetics
    87. SCOTT D; SPREADBOROUGH AR; JONES LA; ROBERTS SA; MOORE CJ
      CHROMOSOMAL RADIOSENSITIVITY IN G(2)-PHASE LYMPHOCYTES AS AN INDICATOR OF CANCER PREDISPOSITION

      Radiation research
    88. MOHLKE KL; NICHOLS WC; WESTRICK RJ; NOVAK EK; COONEY KA; SWANK RT; GINSBURG D
      A NOVEL MODIFIER GENE FOR PLASMA VON-WILLEBRAND-FACTOR LEVEL MAPS TO DISTAL MOUSE CHROMOSOME-11

      Proceedings of the National Academy of Sciences of the United Statesof America
    89. BASILE GD; LAGELOUSE RD; LAMBERT N; SCHWARZ K; LEMARECK B; ODENT S; SCHLEGEL N; FISCHER A
      ISOLATED X-LINKED THROMBOCYTOPENIA IN 2 UNRELATED FAMILIES IS ASSOCIATED WITH POINT MUTATIONS IN THE WISKOTT-ALDRICH SYNDROME PROTEIN GENE

      The Journal of pediatrics
    90. SINHA S; MISHRA S; SINGH V; MITTAL RD; MITTAL B
      HIGH-FREQUENCY OF NEW MUTATIONS IN NORTH INDIAN DUCHENNE BECKER MUSCULAR-DYSTROPHY PATIENTS/

      Clinical genetics
    91. BERGER I; ELPELEG ON; SAADA A
      LIPOAMIDE DEHYDROGENASE-ACTIVITY IN LYMPHOCYTES

      Clinica chimica acta
    92. RAI HK; WINSHIP PR
      A -793 G TO A TRANSITION IN THE FACTOR-IX GENE PROMOTER IS POLYMORPHIC IN THE CAUCASIAN POPULATION

      British Journal of Haematology
    93. REMOLDODONNELL E; ROSEN FS; KENNEY DM
      DEFECTS IN WISKOTT-ALDRICH SYNDROME BLOOD-CELLS

      Blood
    94. RUDZKI Z; SHEFFIELD LJ; RODGERS SE; LLOYD JV
      DETECTION OF CARRIERS OF HEMOPHILIA-A - USE OF BIOASSAYS AND RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS (RFLP)

      Australian and New Zealand Journal of Medicine
    95. BELMONT JW
      GENETIC-CONTROL OF X-INACTIVATION AND PROCESSES LEADING TO X-INACTIVATION SKEWING

      American journal of human genetics
    96. JEAN G; FUCHSHUBER A; TOWN MM; GRIBOUVAL O; SCHNEIDER JA; BROYER M; VANTHOFF W; NIAUDET P; ANTIGNAC C
      HIGH-RESOLUTION MAPPING OF THE GENE FOR CYSTINOSIS, USING COMBINED BIOCHEMICAL AND LINKAGE ANALYSIS

      American journal of human genetics
    97. WITT M; REIS A; CICHY W; DZIECHCIOWSKA K
      MICROSATELLITE HAPLOTYPES OF POLISH CYSTIC-FIBROSIS ALLELES - DELTA-F508 CHROMOSOMES DEMONSTRATE A NORTH-SOUTH HAPLOTYPE FREQUENCY GRADIENT

      Human heredity
    98. BHARAT RA
      HEMOPHILIA CONTROL IN THE LES NATIONS - PROBLEMS AND PRIORITIES - A PERSONAL VIEW

      Haemophilia
    99. CAGLAYAN SH; GOKMEN Y; KIRDAR B
      POLYMORPHISMS ASSOCIATED WITH THE FVIII AND FIX GENES IN THE TURKISH POPULATION

      Haemophilia
    100. HAGEMANN TL; ROSEN FS; KWAN SP
      CHARACTERIZATION OF GERMLINE MUTATIONS OF THE GENE ENCODING BRUTONS TYROSINE KINASE IN FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA

      Human mutation


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Documento generato il 26/05/20 alle ore 12:42:12