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    1. Joosten, PHLJ; Toepoel, M; Mariman, ECM; Van Zoelen, EJJ
      Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects

      NATURE GENETICS
    2. Klootwijk, R; Franke, B; van der Zee, CEEM; de Boer, RT; Wilms, W; Hol, FA; Mariman, ECM
      A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects

      HUMAN MOLECULAR GENETICS
    3. Mariman, ECM
      Act to resolve conflict

      BRITISH MEDICAL JOURNAL
    4. Hol, FA; Schepens, MT; van Beersum, SEC; Redolfi, E; Affer, M; Vezzoni, P; Hamel, BCJ; Karnes, PS; Mariman, ECM; Zucchi, I
      Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes

      GENOMICS
    5. Silahtaroglu, A; Hol, FA; Jensen, PKA; Erdel, M; Duba, HC; Geurds, MPA; Knoers, NVAM; Mariman, ECM; Tumer, Z; Utermann, G; Wirth, J; Bugge, M; Tommerup, N
      Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Siderius, LE; Hamel, BCJ; van Bokhoven, H; de Jager, F; van den Helm, B; Kremer, H; Heineman-de Boer, JA; Ropers, HH; Mariman, ECM
      X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Hamel, BCJ; Smits, APT; van den Helm, B; Smeets, DFCM; Knoers, NVAM; van Roosmalen, T; Thoonen, GHJ; Assman-Hulsmans, CFCH; Ropers, HH; Mariman, ECM; Kremer, H
      Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Yntema, HG; van den Helm, B; Knoers, NVAM; Smits, APT; van Roosmalen, T; Smeets, DFCM; Mariman, ECM; van der Burgt, I; van Bokhoven, H; Ropers, HH; Kremer, H; Hamel, BCJ
      X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Rubio-Gozalbo, ME; Smeitink, JAM; Ruitenbeek, W; Ter Laak, H; Mullaart, RA; Schuelke, M; Mariman, ECM; Sengers, RCA; Gabreels, FJM
      Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

      NEUROLOGY
    10. Hamel, BCJ; Wesseling, P; Renier, WO; van den Helm, B; Ropers, HH; Kremer, H; Mariman, ECM
      A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999)

      JOURNAL OF MEDICAL GENETICS
    11. Hamel, BCJ; Wesseling, P; Renier, WO; van den Helm, B; Ropers, HH; Kremer, H; Mariman, ECM
      A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

      JOURNAL OF MEDICAL GENETICS
    12. Kremer, H; Martens, JWM; van Reen, M; Verhoef-Post, M; Wit, JM; Otten, BJ; Drop, SLS; Delemarre-van de Waal, HA; Pombo-Arias, M; De Luca, F; Potau, N; Buckler, JMH; Jansen, M; Parks, JS; Latif, HA; Moll, GW; Epping, W; Saggese, G; Mariman, ECM; Themmen, APN; Brunner, HG
      A limited repertoire of mutations of the luteinizing hormone (LH) receptorgene in familial and sporadic patients with male LH-independent precociouspuberty

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    13. Ligtenberg, MJL; Hogervorst, FBL; Willems, HW; Arts, PJW; Brink, G; Hageman, S; Bosgoed, EAJ; Van der Looij, E; Rookus, MA; Devilee, P; Vos, EMAW; Wigbout, G; Struycken, PM; Menko, FH; Rutgers, EJT; Hoefsloot, EH; Mariman, ECM; Brunner, HG; Van't Veer, LJ
      Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

      BRITISH JOURNAL OF CANCER
    14. van Bokhoven, H; Jung, M; Smits, APT; van Beersum, S; Ruschendorf, F; van Steensel, M; Veenstra, M; Tuerlings, JHAM; Mariman, ECM; Brunner, HG; Wienker, TF; Reis, A; Ropers, HH; Hamel, BCJ
      Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. HOL FA; GEURDS MPA; CREMERS CWRJ; HAMEL BCJ; MARIMAN ECM
      IDENTIFICATION OF 2 PAX3 MUTATIONS CAUSING WAARDENBURG SYNDROME, ON WITHIN THE PAIRED DOMAIN (M62V) AND THE OTHER DOWNSTREAM OF THE HOMEODOMAIN (Q282X)

      Human mutation
    16. KREMER H; CREMERS CWRJ; VANDENHELM B; MARRES HAM; MEERMAN GJT; BLEIJS DA; ROPERS HH; MARIMAN ECM
      NON-ALLELIC GENETIC-HETEROGENEITY IN A FAMILY WITH NONSYNDROMAL DEAFNESS

      European journal of human genetics
    17. KREMER H; CROSBY AH; VANREEN M; KENMOCHI N; ION A; JAMIESON CR; VANDERBURGT I; PATTON MA; MARIMAN ECM; JEFFERY S
      EXCLUSION OF THE MYOSIN LIGHT-CHAIN-2 GENE AND THE RIBOSOMAL-PROTEIN L6 GENE FROM A CAUSATIVE ROLE IN THE PATHOGENESIS OF NOONAN-SYNDROME

      European journal of human genetics
    18. MARIMAN ECM
      CLUSTERING OF ANOPHTHALMIA AND MICROPHTHALMIA

      BMJ. British medical journal
    19. VANMOURIK JBA; HAMEL BCJ; MARIMAN ECM
      A LARGE FAMILY WITH MULTIPLE EPIPHYSEAL DYSPLASIA LINKED TO COL9A2 GENE

      American journal of medical genetics
    20. JOOSTEN PHLJ; HOL FA; VANBEERSUM SEC; PETERS H; HAMEL BCJ; AFINK GB; VANZOELEN EJJ; MARIMAN ECM
      ALTERED REGULATION OF PLATELET-DERIVED GROWTH-FACTOR RECEPTOR-ALPHA GENE-TRANSCRIPTION IN-VITRO BY SPINA BIFIDA-ASSOCIATED MUTANT PAX1 PROTEINS

      Proceedings of the National Academy of Sciences of the United Statesof America
    21. Kremer, H; Lavrijsen, APM; McLean, WHI; Lane, EB; Melchers, D; Ruiter, DJ; Mariman, ECM; Steijlen, PM
      An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    22. KUIJPERS ALA; PFUNDT R; ZEEUWEN PLJM; MOLHUIZEN HOF; MARIMAN ECM; VANDEKERKHOF PCM; SCHALKWIJK J
      SKALP ELAFIN GENE POLYMORPHISMS ARE NOT ASSOCIATED WITH PUSTULAR FORMS OF PSORIASIS/

      Clinical genetics
    23. HOL FA; VANDERPUT NMJ; GEURDS MPA; HEIL SG; TRIJBELS FJM; HAMEL BCJ; MARIMAN ECM; BLOM HJ
      MOLECULAR-GENETIC ANALYSIS OF THE GENE ENCODING THE TRIFUNCTIONAL ENZYME MTHFD (METHYLENETETRAHYDROFOLATE-DEHYDROGENASE METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE, FORMYLTETRAHYDROFOLATE SYNTHETASE) IN PATIENTS WITH NEURAL-TUBE DEFECTS

      Clinical genetics
    24. LENSSEN PPA; GABREELSFESTEN AAWM; VALENTIJN LJ; JONGEN PJH; VANBEERSUM SEC; VANENGELEN BGM; VANWENSEN PJM; BOLHUIS PA; GABREELS EJM; MARIMAN ECM
      HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - PHENOTYPICDIFFERENCES BETWEEN PATIENTS WITH THE COMMON DELETION AND A PMP22 FRAME-SHIFT MUTATION

      Brain (Print)
    25. Morrison, K; Papapetrou, C; Hol, FA; Mariman, ECM; Lynch, SA; Burn, J; Edwards, YH
      Susceptibility to spina bifida; an association study of five candidate genes

      ANNALS OF HUMAN GENETICS
    26. VANDERPUT NMJ; THOMAS CMG; ESKES TKAB; TRIJBELS FJM; STEEGERSTHEUNISSEN RPM; MARIMAN ECM; DEGRAAFHESS A; SMEITINK JAM; BLOM HJ
      ALTERED FOLATE AND VITAMIN-B-12 METABOLISM IN FAMILIES WITH SPINA-BIFIDA OFFSPRING

      Quarterly Journal of Medicine
    27. NELEN MR; VANSTAVEREN WCG; PEETERS EAJ; BENHASSEL M; GORLIN RJ; HAMM H; LINDBOE CF; FRYNS JP; SIJMONS RH; WOODS DG; MARIMAN ECM; PADBERG GW; KREMER H
      GERMLINE MUTATIONS IN THE PTEN MMAC1 GENE IN PATIENTS WITH COWDEN-DISEASE/

      Human molecular genetics
    28. VANDERPUT NMJ; VANDENHEUVEL LP; STEEGERSTHEUNISSEN RPM; TRIJBELS FJM; ESKES TKAB; MARIMAN ECM; DENHEYER M; BLOM HJ
      DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING (VOL 74, PG 691, 1996)

      Journal of molecular medicine
    29. RUBIOGOZALBO ME; RUITENBEEK W; BENTLAGE HACM; SCHAGGER H; SENGERS RCA; TRIJBELS JMF; TERLAAK HJ; MARIMAN ECM; BAKKER MM; DEJAGER J; SMEITINK JAM
      FAVORABLE CLINICAL COURSE IN AN INFANT WITH SEVERE DEFICIENCY OF COMPLEX-III OF THE RESPIRATORY-CHAIN COMBINED WITH LESS SEVERE DEFICIENCIES OF COMPLEX-I, COMPLEX-II AND COMPLEX-IV

      European journal of pediatrics
    30. STRUYCKEN PM; CREMERS CWRJ; MARIMAN ECM; JOOSTEN FBM; BLEKER RJTM
      GLOMUS TUMORS AND GENOMIC IMPRINTING - INFLUENCE OF INHERITANCE ALONGTHE PATERNAL OR MATERNAL LINE

      Clinical otolaryngology and allied sciences
    31. PADBERG GW; VANDERHELM B; KUYT LP; VANREEN M; MARIMAN ECM; KREMER H
      FINE MAPPING OF THE GENE FOR AUTOSOMAL-DOMINANT CONGENITAL FACIAL PARALYSIS ON CHROMOSOME 3Q

      Neurology
    32. HOL FA; GEURDS MPA; MARIMAN ECM; KNOERS N
      REFINEMENT OF THE LOCUS FOR THE NAIL-PATELLA SYNDROME AT 9Q34

      American journal of human genetics
    33. NELEN MR; PADBERG GW; PEETERS EAJ; LIN AY; VANDENHELM B; FRANTS RR; COULON V; GOLDSTEIN AM; VANREEN MMM; EASTON DF; EELES RA; HODGSON S; MULVIHILL JJ; MURDAY VA; TUCKER MA; MARIMAN ECM; STARINK TM; PONDER BAJ; ROPERS HH; KREMER H; LONGY M; ENG C
      LOCALIZATION OF THE GENE FOR COWDEN DISEASE TO CHROMOSOME 10Q22-23

      Nature genetics
    34. MURAGAKI Y; MARIMAN ECM; VANBEERSUM SEC; PERALA M; VANMOURIK JBA; WARMAN ML; OLSEN BR; HAMEL BCJ
      A MUTATION IN THE GENE ENCODING THE ALPHA-2 CHAIN OF THE FIBRIL-ASSOCIATED COLLAGEN-IX, COL9A2, CAUSES MULTIPLE EPIPHYSEAL DYSPLASIA (EDM2)

      Nature genetics
    35. KREMER H; KUYT LP; VANDENHELM B; VANREEN M; LEUNISSEN JAM; HAMEL BCJ; JANSEN C; MARIMAN ECM; FRANTS RR; PADBERG GW
      LOCALIZATION OF A GENE FOR MOBIUS-SYNDROME TO CHROMOSOME 3Q BY LINKAGE ANALYSIS IN A DUTCH FAMILY

      Human molecular genetics
    36. VANDERPUT NMJ; VANDENHEUVEL LP; STEEGERSTHEUNISSEN RPM; TRIJBELS FJM; ESKES TKAB; MARIMAN ECM; DENHEYER M; BLOM HJ
      DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING

      Journal of molecular medicine
    37. KREMER H; HAMEL BCJ; VANDENHELM B; ARTS WFM; DEWIJS IJ; SISTERMANS EA; ROPERS HH; MARIMAN ECM
      LOCALIZATION OF THE GENE (OR GENES) FOR A SYNDROME WITH X-LINKED MENTAL-RETARDATION, ATAXIA, WEAKNESS, HEARING IMPAIRMENT, LOSS OF VISION AND A FATAL COURSE IN EARLY-CHILDHOOD

      Human genetics
    38. HAMEL BCJ; SMITS APT; OTTEN BJ; VANDENHELM B; ROPERS HH; MARIMAN ECM
      FAMILIAL X-LINKED MENTAL-RETARDATION AND ISOLATED GROWTH-HORMONE DEFICIENCY - CLINICAL AND MOLECULAR FINDINGS

      American journal of medical genetics
    39. HAMEL BCJ; KREMER H; WESBYVANSWAAY E; VANDENHELM B; SMITS APT; OOSTRA BA; ROPERS HH; MARIMAN ECM
      A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX41) IS LOCATEDIN THE DISTAL SEGMENT OF XQ28

      American journal of medical genetics
    40. GABREELSFESTEN AAWM; HOOGENDIJK JE; MEIJERINK PHS; GABREELS FJM; BOLHUIS PA; VANBEERSUM S; KULKENS T; NELIS E; JENNEKENS FGI; DEVISSER M; VANENGELEN BGM; VANBROECKHOVEN C; MARIMAN ECM
      2 DIVERGENT TYPES OF NERVE PATHOLOGY IN PATIENTS WITH DIFFERENT P-0 MUTATIONS IN CHARCOT-MARIE-TOOTH DISEASE

      Neurology
    41. HOL FA; GEURDS MPA; CHATKUPT S; SHUGART YY; BALLING R; SCHRANDERSTUMPEL CTR; JOHNSON WG; HAMEL BCJ; MARIMAN ECM
      PAX GENES AND HUMAN NEURAL-TUBE DEFECTS - AN AMINO-ACID SUBSTITUTION IN PAX1 IN A PATIENT WITH SPINA-BIFIDA

      Journal of Medical Genetics
    42. HOL FA; HAMEL BCJ; GEURDS MPA; HANSMANN I; NABBEN FAE; DANIELS O; MARIMAN ECM
      LOCALIZATION OF ALAGILLE SYNDROME TO 20P11.2-P12 BY LINKAGE ANALYSIS OF A 3-GENERATION FAMILY

      Human genetics
    43. MARIMAN ECM; VANBEERSUM SEC; CREMERS CWRJ; STRUYCKEN PM; ROPERS HH
      FINE MAPPING OF A PUTATIVELY IMPRINTED GENE FOR FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS TO CHROMOSOME 11Q13.1 - EVIDENCE FOR GENETIC-HETEROGENEITY

      Human genetics
    44. VANDERPUT NMJ; STEEGERSTHEUNISSEN RPM; FROSST P; TRIJBELS FJM; ESKES TKAB; VANDENHEUVEL LP; MARIMAN ECM; DENHEYER M; ROZEN R; BLOM HJ
      MUTATED METHYLENETETRAHYDROFOLATE REDUCTASE AS A RISK FACTOR FOR SPINA-BIFIDA

      Lancet
    45. VIKKULA M; MARIMAN ECM; LUI VCH; ZHIDKOVA NI; TILLER GE; GOLDRING MB; VANBEERSUM SEC; MALEFIJT MCD; VANDENHOOGEN FHJ; ROPERS HH; MAYNE R; CHEAH KSE; OLSEN BR; WARMAN ML; BRUNNER HG
      AUTOSOMAL-DOMINANT AND RECESSIVE OSTEOCHONDRODYSPLASIAS ASSOCIATED WITH THE COL11A2 LOCUS

      Cell
    46. CHATKUPT S; HOL FA; SHUGART YY; GEURDS MPA; STENROOS ES; KOENIGSBERGER MR; HAMEL BCJ; JOHNSON WG; MARIMAN ECM
      ABSENCE OF LINKAGE BETWEEN FAMILIAL NEURAL-TUBE DEFECTS AND PAX3 GENE

      Journal of Medical Genetics
    47. HOL FA; HAMEL BCJ; GEURDS MPA; MULLAART RA; BARR FG; MACINA RA; MARIMAN ECM
      A FRAMESHIFT MUTATION IN THE GENE FOR PAX3 IN A GIRL WITH SPINA-BIFIDA AND MILD SIGNS OF WAARDENBURG-SYNDROME

      Journal of Medical Genetics
    48. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; VALENTIJN LJ; BOLHUIS PA; BAAS F; ROPERS HH; GABREELS FJM
      ELUCIDATION OF THE MOLECULAR DEFECT CAUSING A SEVERE TYPE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES COMMON 1.5 MB DELETION IN CHROMOSOME-17P

      American journal of human genetics
    49. HOL FA; GEURDS MPA; HAMEL BCJ; MARIMAN ECM
      AN AMINO-ACID SUBSTITUTION IN PAX1 IN A CHILD WITH SPINA-BIFIDA AND INDICATIONS FOR ALLELIC ASSOCIATION OF THE PAX3 GENE WITH HUMAN NEURAL-TUBE DEFECTS

      American journal of human genetics
    50. BRUNNER HG; VANBEERSUM SEC; WARMAN ML; OLSEN BR; ROPERS HH; MARIMAN ECM
      A STICKLER SYNDROME GENE IS LINKED TO CHROMOSOME-6 NEAR THE COL11A2 GENE

      Human molecular genetics
    51. KREMER H; PINCKERS A; VANDENHELM V; DEUTMAN AF; ROPERS HH; MARIMAN ECM
      LOCALIZATION OF THE GENE FOR DOMINANT CYSTOID MACULAR DYSTROPHY ON CHROMOSOME 7P

      Human molecular genetics
    52. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; VALENTIJN LJ; BAAS F; BOLHUIS PA; JONGEN PJH; ROPERS HH; GABREELS FJM
      PREVALENCE OF THE 1.5-MB 17P DELETION IN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Annals of neurology
    53. CHATKUPT S; HOL FA; SHUGART YY; GEURDS MPH; STENROOS ES; KOENIGSBERGER MR; HAMEL BCJ; MARIMAN ECM; JOHNSON WG
      TESTING LINKAGE BETWEEN FAMILIAL NEURAL-TUBE DEFECTS AND THE PAX-3 GENE

      Annals of neurology
    54. DRENTH JPH; MARIMAN ECM; VANDERVELDEVISSER SD; ROPERS HH; VANDERMEER JWM; WEEMAES CMR; BIJLSMA JWJ; DEGRAEFFMEEDER ER; ALCALAY M; CHAPELONABRIC C; KAHN MF; PRIEUR AM; SIBILIA J; MORAND C; POWELL RJ; TOPALOGLU R; SAATCI U; SCOLOZZI R; LAZZARIN P; MONCIOTTI CM; DEMONTY J; JILEK D; MIYAGAWA S; ESPANOL T
      LOCATION OF THE GENE CAUSING HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC-FEVER-SYNDROME DIFFERS FROM THAT FOR FAMILIAL MEDITERRANEAN FEVER

      Human genetics
    55. HOL FA; GEURDS MPA; JENSSON O; HAMEL BCJ; MOORE GE; NEWTON R; MARIMAN ECM
      EXCLUSION MAPPING OF THE GENE FOR X-LINKED NEURAL-TUBE DEFECTS IN AN ICELANDIC FAMILY

      Human genetics
    56. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; JONGEN PJH; VANDELOOIJ E; BAAS F; BOLHUIS PA; ROPERS HH; GABREELS FJM
      EVIDENCE FOR GENETIC-HETEROGENEITY UNDERLYING HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Human genetics
    57. HAMEL BCJ; MARIMAN ECM; VANBEERSUM SEC; SCHOONBROODLENSSEN AMJ; ROPERS HH
      MENTAL-RETARDATION, CONGENITAL HEART DEFECT, CLEFT-PALATE, SHORT STATURE, AND FACIAL ANOMALIES - A NEW X-LINKED MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION SYNDROME - CLINICAL DESCRIPTION AND MOLECULAR STUDIES

      American journal of medical genetics
    58. STEIJLEN PM; KREMER H; VAKILZADEH F; HAPPLE R; LAVRIJSEN APM; ROPERS HH; MARIMAN ECM
      GENETIC-LINKAGE OF THE KERATIN TYPE-II GENE-CLUSTER WITH ICHTHYOSIS BULLOSA OF SIEMENS AND WITH AUTOSOMAL-DOMINANT ICHTHYOSIS EXFOLIATIVA

      Journal of investigative dermatology
    59. KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM
      ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE

      Journal of investigative dermatology
    60. KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM
      ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE

      Journal of investigative dermatology
    61. VANGURP RJHLM; OOSTERHUIS JW; KALSCHEUER V; MARIMAN ECM; LOOIJENGA LHJ
      BIALLELIC EXPRESSION OF THE H19 AND IGF2 GENES IN HUMAN TESTICULAR GERM-CELL TUMORS

      Journal of the National Cancer Institute
    62. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; JONGEN PJH; ROPERS HH; GABREELS FJM
      GENE FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) MAPS TO CHROMOSOME-17 AT OR CLOSE TO THE LOCUS FOR HMSN TYPE-1

      Human genetics
    63. MARIMAN ECM; VANBEERSUM SEC; CREMERS CWRJ; VANBAARS FM; ROPERS HH
      ANALYSIS OF A 2ND FAMILY WITH HEREDITARY NONCHROMAFFIN PARAGANGLIOMASLOCATES THE UNDERLYING GENE AT THE PROXIMAL REGION OF CHROMOSOME-11Q

      Human genetics
    64. SHUGART Y; CHATKUPT S; HORAN JT; DERMODY JJ; KOENIGSBERGER MR; MARIMAN ECM; HAMEL BCJ; HOL FA; GEURDS MPA; STENROOS ES; JOHNSON WG
      LINKAGE STUDY OF FAMILIAL MYELOMENINGOCELE AND A CANDIDATE REGION

      Neurology
    65. HOL FA; GEURDS MPA; HAMEL BCJ; MARIMAN ECM
      A STUDY ON THE POSSIBLE INVOLVEMENT OF THE PAX3 GENE IN HUMAN NEURAL-TUBE DEFECTS

      American journal of human genetics
    66. KREMER H; VANDENHELM B; SMITS APT; HAMEL BCJ; ARTS WF; WESBYVANSWAAY E; OOSTRA BA; VANDERMAAREL SM; MARIMAN ECM; ROPERS HH
      LOCALIZATION OF GENES FOR NONSPECIFIC AND SYNDROMAL X-LINKED MENTAL-RETARDATION

      American journal of human genetics
    67. GEURDS MPA; HOL FA; MARIMAN ECM; HAMEL BCJ; SHUGART Y; STENROOS ES; KOENIGSBERGER MR; JOHNSON WG; CHATKUPT S
      LINKAGE STUDY OF FAMILIAL SPINA-BIFIDA AND THE PAX3 GENE

      American journal of human genetics


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Documento generato il 05/06/20 alle ore 16:07:28