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    1. Merchany, SN; McKenna, MJ; Nadol, JB; Kristiansen, AG; Tropitzsch, A; Lindal, S; Tranebjaerg, L
      Temporal bone histopathologic and genetic studies in Mohr-Tranebj rg syndrome (DFN-1)

      OTOLOGY & NEUROTOLOGY
    2. Larsen, LA; Vuust, J; Nystad, M; Evseeva, I; Van Ghelue, M; Tranebjaerg, L
      Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Lund, A; Udd, B; Juvonen, V; Andersen, PM; Cederquist, K; Davis, M; Gellera, C; Kolmel, C; Ronnevi, LO; Sperfeld, AD; Sorensen, SA; Tranebjaerg, L; Van Maldergem, L; Watanabe, M; Weber, M; Yeung, L; Savontaus, ML
      Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Tyson, J; Tranebjaerg, L; McEntagart, M; Larsen, LA; Christiansen, M; Whiteford, ML; Bathen, J; Aslaksen, B; Sorland, SJ; Lund, O; Pembrey, ME; Malcolm, S; Bitner-Glindzicz, M
      Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000)

      HUMAN GENETICS
    5. Larsen, LA; Andersen, PS; Kanters, J; Svendsen, IH; Jacobsen, JR; Vuust, J; Wettrell, G; Tranebjaerg, L; Bathen, J; Christiansen, M
      Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome

      CLINICAL CHEMISTRY
    6. Huang, LQ; Bitner-Glindzicz, M; Tranebjaerg, L; Tinker, A
      A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

      CARDIOVASCULAR RESEARCH
    7. Dreyer, B; Tranebjaerg, L; Brox, V; Rosenberg, T; Moller, C; Beneyto, M; Weston, MD; Kimberling, WJ; Cremers, CWRJ; Liu, XZ; Nilssen, O
      A common ancestral origin of the frequent and widespread 2299delG USH2A mutation (vol 69, pg 228, 2001)

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Dreyer, B; Tranebjaerg, L; Brox, V; Rosenberg, T; Moller, C; Beneyto, M; Weston, MD; Kimberling, WJ; Nilssen, O
      A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Gedeon, AK; Tiller, GE; Le Merrer, M; Heuertz, S; Tranebjaerg, L; Chitayat, D; Robertson, S; Glass, IA; Savarirayan, R; Cole, WG; Rimoin, DL; Kousseff, BG; Ohashi, H; Zabel, B; Munnich, A; Gecz, J; Mulley, JC
      The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Gaspar, C; Lopes-Cendes, I; Hayes, S; Goto, J; Arvidsson, K; Dias, A; Silveira, I; Maciel, P; Coutinho, P; Lima, M; Zhou, YX; Soong, BW; Watanabe, M; Giunti, P; Stevanin, G; Riess, O; Sasaki, H; Hsieh, M; Nicholson, GA; Brunt, E; Higgins, JJ; Lauritzen, M; Tranebjaerg, L; Volpini, V; Wood, N; Ranum, L; Tsuji, S; Brice, A; Sequeiros, J; Rouleau, GA
      Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Ludecke, HJ; Schaper, J; Meinecke, P; Momeni, P; Gross, S; von Holtum, D; Hirche, H; Abramowicz, MJ; Albrecht, B; Apacik, C; Christen, HJ; Claussen, U; Devriendt, K; Fastnacht, E; Forderer, A; Friedrich, U; Goodship, THJ; Greiwe, M; Hamm, H; Hennekam, RCM; Hinkel, GK; Hoeltzenbein, M; Kayserili, H; Majewski, F; Mathieu, M; McLeod, R; Midro, AT; Moog, U; Nagai, T; Niikawa, N; Orstavik, KH; Plochl, E; Seitz, C; Schmidtke, J; Tranebjaerg, L; Tsukahara, M; Wittwer, B; Zabel, B; Gillessen-Kaesbach, G; Horsthemke, B
      Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Machado, RD; Pauciulo, MW; Thomson, JR; Lane, KB; Morgan, NV; Wheeler, L; Phillips, JA; Newman, J; Williams, D; Galie, N; Manes, A; McNeil, K; Yacoub, M; Mikhail, G; Rogers, P; Corris, P; Humbert, M; Donnai, D; Martensson, G; Tranebjaerg, L; Loyd, JE; Trembath, RC; Nichols, WC
      BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Lund, A; Udd, B; Juvonen, V; Andersen, PM; Cederquist, K; Ronnevi, LO; Sistonen, P; Sorensen, SA; Tranebjaerg, L; Wallgren-Pettersson, C; Savontaus, ML
      Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    14. Dreyer, B; Tranebjaerg, L; Rosenberg, T; Weston, MD; Kimberling, WJ; Nilssen, O
      Identification of novel USH2A mutations: implications for the structure ofUSH2A protein

      EUROPEAN JOURNAL OF HUMAN GENETICS
    15. Tranebjaerg, L; Hamel, BCJ; Gabreels, FJM; Renier, WO; Van Ghelue, M
      A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    16. Aymc, S; Bobrow, M; Coviello, D; Evers-Kiebooms, G; Farndon, P; Kaariainen, H; Kristoffersson, U; Pembrey, M; Raeburn, S; Cassiman, JJ; Schmidtke, J; ten Kate, L; Tranebjaerg, L
      Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics (vol 8, pg 998, 2000)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Tyson, J; Tranebjaerg, L; McEntagart, M; Larsen, LA; Christiansen, M; Whiteford, ML; Bathen, J; Aslaksen, B; Sorland, SJ; Lund, O; Pembrey, ME; Malcolm, S; Bitner-Glindzicz, M
      Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

      HUMAN GENETICS
    18. Malm, D; Halvorsen, DS; Tranebjaerg, L; Sjursen, H
      Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes

      EUROPEAN JOURNAL OF PEDIATRICS
    19. Norum, J; Tranebjaerg, L
      Health, life and disability insurance and hereditary risk for breast or colorectal cancer

      ACTA ONCOLOGICA
    20. Fryns, JP; Borghgraef, M; Brown, TW; Chelly, J; Fisch, GS; Hamel, B; Hanauer, A; Lacombe, D; Luo, L; MacPherson, JN; Mandel, JL; Moraine, C; Mulley, J; Nelson, D; Oostra, B; Partington, M; Ramakers, GJA; Ropers, HH; Rousseau, F; Schwartz, C; Steinbach, P; Stoll, C; Tranebjaerg, L; Turner, G; Van Bokhoven, H; Vianna-Morgante, A; Villard, L; Warren, ST
      9th international workshop on fragile X syndrome and X-linked mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Tranebjaerg, L; Jensen, PKA; van Ghelue, M
      X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome)

      GENETICS IN OTORHINOLARYNGOLOGY
    22. Tranebjaerg, L; Bathen, J; Tyson, J; Bitner-Glindzicz, M
      Jervell and Lange-Nielsen syndrome: A Norwegian perspective

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Holden, JJA; Percy, M; Allingham-Hawkins, D; Brown, WT; Chiurazzi, P; Fisch, G; Gane, L; Gunter, C; Hagerman, R; Jenkins, EC; Kooy, RF; Lubs, HA; Murray, A; Neri, G; Schwartz, C; Tranebjaerg, L; Villard, L; Willems, PJ
      Eighth International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 16-22, 1997

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Lubs, H; Chiurazzi, P; Arena, J; Schwartz, C; Tranebjaerg, L; Neri, G
      XLMR genes: Update 1998

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Fagerheim, T; Raeymaekers, P; Tonnessen, FE; Pedersen, M; Tranebjaerg, L; Lubs, HA
      A new gene (DYX3) for dyslexia is located on chromosome 2

      JOURNAL OF MEDICAL GENETICS
    26. Fagerheim, T; Raeymaekers, P; Merren, J; Mani, K; Jha, GK; Baumbach, L; Brox, V; Breines, E; Holdo, BE; Holdo, A; Tranebjaerg, L
      Homozygosity mapping to the USH2A locus in two isolated populations

      JOURNAL OF MEDICAL GENETICS
    27. Sun, C; Henriksen, OA; Tranebjaerg, L
      Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM

      CLINICAL GENETICS
    28. Annunen, S; Korkko, J; Czarny, M; Warman, ML; Brunner, HG; Kaariainen, H; Mulliken, JB; Tranebjaerg, L; Brooks, DG; Cox, GF; Cruysberg, JR; Curtis, MA; Davenport, SLH; Friedrich, CA; Kaitila, I; Krawczynski, MR; Latos-Bielenska, A; Mukai, S; Olsen, BR; Shinno, N; Somer, M; Vikkula, M; Zlotogora, J; Prockop, DJ; Ala-Kokko, L
      Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

      AMERICAN JOURNAL OF HUMAN GENETICS
    29. Plenge, RM; Tranebjaerg, L; Jensen, PKA; Schwartz, C; Willard, HF
      Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. Berg, T; Riise, HMF; Hansen, GN; Malm, D; Tranebjaerg, L; Tollersrud, OK; Nilssen, O
      Spectrum of mutations in alpha-mannosidosis

      AMERICAN JOURNAL OF HUMAN GENETICS
    31. ANDERSEN TI; EIKEN HG; COUCH F; KAADA G; SKREDE M; JOHNSEN H; ALOYSIUS TA; TVEIT KM; TRANEBJAERG L; DORUM A; MOLLER P; WEBER BL; BORRESENDALE AL
      CONSTANT DENATURANT GEL-ELECTROPHORESIS (CDGE) IN BRCA1 MUTATION SCREENING

      Human mutation
    32. BUGGE M; COLLINS A; PETERSEN MB; FISHER J; BRANDT C; HERTZ JM; TRANEBJAERG L; DELOZIERBLANCHET C; NICOLAIDES P; BRONDUMNIELSEN K; MORTON N; MIKKELSEN M
      NONDISJUNCTION OF CHROMOSOME-18

      Human molecular genetics
    33. LOKKEGAARD T; NIELSEN JE; HASHOLT L; FENGER K; WERDELIN L; TRANEBJAERG L; LAURITZEN M; COLDINGJORGENSEN E; GRONBECHJENSEN M; HENRIKSEN OA; SORENSEN SA
      MACHADO-JOSEPH-DISEASE IN 3 SCANDINAVIAN FAMILIES

      Journal of the neurological sciences
    34. TEH BT; KYTOLA S; FARNEBO F; BERGMAN L; WONG FK; WEBER G; HAYWARD N; LARSSON C; SKOGSEID B; BECKERS A; PHELAN C; EDWARDS M; EPSTEIN M; ALFORD F; HURLEY D; GRIMMOND S; SILINS G; WALTERS M; STEWART C; CARDINAL J; KHODAEI S; PARENTE F; TRANEBJAERG L; JORDE R; MENON J; KHIR A; TAN TT; CHAN SP; ZAINI A; KHALID BAK; SANDELIN K; THOMPSON N; BRANDI ML; WARTH M; STOCK J; LEISTI J; CAMERON D; SHEPHERD JJ; OBERG K; NORDENSKJOLD M; SALMELA P
      MUTATION ANALYSIS OF THE MEN1 GENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1, FAMILIAL ACROMEGALY AND FAMILIAL ISOLATED HYPERPARATHYROIDISM

      The Journal of clinical endocrinology and metabolism
    35. NIKOSHKOV A; LAJIC S; VLAMISGARDIKAS A; TRANEBJAERG L; HOLST M; WEDELL A; LUTHMAN H
      NATURALLY-OCCURRING MUTANTS OF HUMAN STEROID 21-HYDROXYLASE (P450C21)PINPOINT RESIDUES IMPORTANT FOR ENZYME-ACTIVITY AND STABILITY

      The Journal of biological chemistry
    36. Wandall, A; Tranebjaerg, L; Tommerup, N
      A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores

      CHROMOSOMA
    37. PEKKARINEN P; HOVATTA I; HAKOLA P; JARVI O; KESTILA M; LENKKERI U; ADOLFSSON R; HOLMGREN G; NYLANDER PO; TRANEBJAERG L; TERWILLIGER JD; LONNQVIST J; PELTONEN L
      ASSIGNMENT OF THE LOCUS FOR PLO-SL, A FRONTAL-LOBE DEMENTIA WITH BONE-CYSTS, TO 19Q13

      American journal of human genetics
    38. TRANEBJAERG L; BORRESENDALE AL; HANSTEEN IL; HEIM S; KVITTINGEN EA; MOLLER P
      GENETIC SERVICES IN NORWAY

      European journal of human genetics
    39. NILSSEN O; BERG T; RIISE HMF; RAMACHANDRAN U; EVJEN G; HANSEN GM; MALM D; TRANEBJAERG L; TOLLERSRUD OK
      ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE LYSOSOMAL ALPHA-MANNOSIDASE CDNA AND IDENTIFICATION OF A MUTATION IN 2 AFFECTED SIBLINGS

      Human molecular genetics
    40. SCHWARTZ M; SORENSEN N; HANSEN FJ; HERTZ JM; NORBY S; TRANEBJAERG L; SKOVBY F
      QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY

      Human molecular genetics
    41. CLAYTONSMITH J; KERR B; BRUNNER H; TRANEBJAERG L; MAGEE A; HENNEKAM RCM; MUELLER RF; BRUETON L; SUPER M; STEENJOHNSEN J; DONNAI D
      MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME

      Clinical dysmorphology
    42. NARDMANN J; TRANEBJAERG L; HORSTHEMKE B; LUDECKE HJ
      THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS

      Human genetics
    43. PEKKARINEN P; HOVATTA I; JARVI O; LONNQVIST J; ADOLFSSON R; NYLANDER PO; HOLMGREN G; TRANEBJAERG L; HAKOLA P; PELTONEN L
      GENOME SCAN REVEALS A LOCUS FOR A PREFRONTAL DEMENTIA WITH BONE-CYSTSON CHROMOSOME-19

      American journal of medical genetics
    44. BITNERGLINDZICZ M; TYSON J; TRANEBJAERG L; BELLMAN S; WREN C; MALCOLM S; PEMBREY M; BHATTACHARYA S
      MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME

      Journal of Medical Genetics
    45. PEKKARINEN P; HOVATTA I; HAKOLA P; JARVI O; LONNQVIST J; ADOLFSSON R; NYLANDER PO; HOLMGREN G; TRANEBJAERG L; PELTONEN L
      GENOME SCAN REVEALS A LOCUS FOR PLO-SL, A PREFRONTAL DEMENTIA WITH BONE-CYSTS ON CHROMOSOME-19

      American journal of human genetics
    46. BUGGE M; HANSEN C; BRANDT CA; HERTZ JM; TRANEBJAERG L; MIKKELSEN M; PETERSEN MB
      APOLIPOPROTEIN-E ALLELES IN MOTHERS OF TRISOMY-18 CONCEPTUSES

      American journal of human genetics
    47. RIISE HMF; BERG T; HANSEN GM; MALM D; TRANEBJAERG L; TOLLERSRUD OK; NILSSEN O
      ALPHA-MANNOSIDOSIS - SPECTRUM OF MUTATIONS SHOWS HETEROGENEITY BUT NOOBVIOUS GENOTYPE PHENOTYPE CORRELATIONS/

      American journal of human genetics
    48. TRANEBJAERG L; VANGHELUE M; NILSSEN O; HODES ME; DLOUHY SR; FARLOW MR; HAMEL B; ARTS WFM; JANKOVIC J; BEACH J; JENSEN PKA
      JENSEN-SYNDROME IS ALLELIC TO MOHR-TRANEBJAERG-SYNDROME AND BOTH ARE CAUSED BY STOP MUTATIONS IN THE DDP GENE

      American journal of human genetics
    49. TYSON J; TRANEBJAERG L; BELLMAN S; WREN C; TAYLOR J; BATHEN J; ASLAKSEN B; SORLAND SJ; LUND O; MALCOLM S; PEMBREY M; BHATTACHARYA S; BITNERGLINDZICZ M
      ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME

      American journal of human genetics
    50. PONJAVIC V; ANDREASSON S; TRANEBJAERG L; LUBS HA
      FULL-FIELD ELECTRORETINOGRAMS IN A FAMILY WITH MOHR-TRANEBJAERG SYNDROME

      Acta ophthalmologica Scandinavica
    51. JIN H; MAY M; TRANEBJAERG L; KENDALL E; FONTAN G; JACKSON J; SUBRAMONY SH; ARENA F; LUBS H; SMITH S; STEVENSON R; SCHWARTZ C; VETRIE D
      A NOVEL X-LINKED GENE, DDP, SHOWS MUTATIONS IN FAMILIES WITH DEAFNESS(DFN-1), DYSTONIA, MENTAL DEFICIENCY AND BLINDNESS

      Nature genetics
    52. FAGERHEIM T; NILSSEN O; RAEYMAEKERS P; BROX V; MOUM T; ELVERLAND HH; TEIG E; OMLAND HH; FOSTAD GK; TRANEBJAERG L
      IDENTIFICATION OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT NON-SYNDROMIC HEARING IMPAIRMENT (DFNA7) IN A LARGE NORWEGIAN FAMILY

      Human molecular genetics
    53. SCHWARTZ M; BEKASSY A; DONNER M; HERTEL T; HREIDARSON S; KERNDRUP G; STORMORKEN H; STOKLAND T; TRANEBJAERG L; ORSTAVIK KH; SKOVBY F
      MUTATION SPECTRUM IN PATIENTS WITH WISKOTT-ALDRICH SYNDROME AND X-LINKED THROMBOCYTOPENIA - IDENTIFICATION OF 12 DIFFERENT MUTATIONS IN THEWASP GENE

      Thrombosis and haemostasis
    54. TRANEBJAERG L; LUBS HA; BORGHGRAEF M; BROWN WT; FISCH G; FRYNS JP; HAGERMAN R; JACOBS PA; MANDEL JL; MULLEY J; OOSTRA B; SCHWARTZ C; SHERMAN S; WILLARD H; WILLEMS P
      7TH INTERNATIONAL WORKSHOP ON THE FRAGILE-X-LINKED AND X-LINKED MENTAL-RETARDATION

      American journal of medical genetics
    55. 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
    56. LUBS HA; CHIURAZZI P; ARENA JF; SCHWARTZ C; TRANEBJAERG L; NERI G
      XLMR GENES - UPDATE 1996

      American journal of medical genetics
    57. PONJAVIC V; ANDREASSON SO; ERIKSEN H; TRANEBJAERG L; EHINGER B
      FULL-FIELD ELECTRORETINOGRAMS IN A 3 GENERATION FAMILY WITH DOMINANT CONE-ROD DYSTROPHY

      Investigative ophthalmology & visual science
    58. SAJANTILA A; LAHERMO P; ANTTINEN T; LUKKA M; SISTONEN P; SAVONTAUS ML; AULA P; BECKMAN L; TRANEBJAERG L; GEDDEDAHL T; ISSELTARVER L; DIRIENZO A; PAABO S
      GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES

      PCR methods and applications
    59. AGARDI D; PIGG M; SJOHOLM AG; TRUEDSSON L; SPATH PJ; KUIJPER EJ; TIJSSEN CC; TRANEBJAERG L; GUSTAVSON KH; ULFENDAHL PJ; WADELIUS C
      FLUORESCENT DETECTION OF MICROSATELLITE POLYMORPHISMS - PROPERDIN DEFICIENCY LINKED TO PFC MICROSATELLITE

      Experimental and clinical immunogenetics
    60. TRANEBJAERG L; SCHWARTZ C; ERIKSEN H; ANDREASSON S; PONJAVIC V; DAHL A; STEVENSON RE; MAY M; ARENA F; BARKER D; ELVERLAND HH; LUBS H
      A NEW X-LINKED RECESSIVE DEAFNESS SYNDROME WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY IS LINKED TO XQ22

      Journal of Medical Genetics
    61. NILSSEN O; BERG T; RUBENTHIRAN U; HANSEN GM; RIISE HMF; TRANEBJAERG L; MALM D; TOLLERSRUD OK
      ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE ALPHA-MANNOSIDASE GENEAND IDENTIFICATION OF A MUTATION IN AFFECTED SIBLINGS

      American journal of human genetics
    62. BERGE LN; MARTON V; TRANEBJAERG L; KEARNEY MS; KISERUD T; OIAN P
      PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA

      Acta obstetricia et gynecologica Scandinavica
    63. SCHWARTZ M; ANVRET M; CLAUSTRES M; EIKEN HG; EIKLID K; SCHAEDEL C; STOLPE L; TRANEBJAERG L
      394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION

      Human genetics
    64. JORGENSEN FS; BANG J; TRANEBJAERG L; BERGE LN; EIKNES SH; SCHWARTZ M
      EARLY PRENATAL DIRECT GENE DIAGNOSIS OF CYSTIC-FIBROSIS IN A TWIN PREGNANCY AND SUBSEQUENT SELECTIVE TERMINATION

      Prenatal diagnosis
    65. TRANEBJAERG L; HILLING S; JESSEN J; LIND D; HANSEN MS
      PREVALENCE OF FRA(X) IN THE COUNTY OF FUNEN IN DENMARK IS LOWER THAN EXPECTED

      American journal of medical genetics
    66. SMITH RJH; BERLIN CI; HEJTMANCIK JF; KEATS BJB; KIMBERLING WJ; LEWIS RA; MOLLER CG; PELIAS MZ; TRANEBJAERG L
      CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES

      American journal of medical genetics
    67. TOLLERSRUD OK; NILSSEN O; TRANEBJAERG L; BORUD O
      ASPARTYLGLUCOSAMINURIA IN NORTHERN NORWAY - A MOLECULAR AND GENEALOGICAL STUDY

      Journal of Medical Genetics
    68. HEUERTZ S; NELEN M; WILKIE AOM; LEMERRER M; DELRIEU O; LARGETPIET L; TRANEBJAERG L; BICK D; HAMEL B; VANOOST BA; MAROTEAUX P; HORSCAYLA MC
      THE GENE FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL) MAPS TO XP22 BETWEENDXS16 AND DXS92

      Genomics
    69. EIKLID K; TRANEBJAERG L; EIKEN HG; PEDERSEN JC; MICHALSEN H; FLUGE G; SCHWARTZ M; NILSEN BR; BOLLE R; SKYBERG D; BOMAN H; BERG K
      FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS

      Clinical genetics


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Documento generato il 26/05/20 alle ore 06:44:43