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La ricerca find articoli where authors phrase all words ' Beemer, FA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 58 riferimenti
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    1. Okkerse, JME; Beemer, FA; Cordia-de Boer, M; Heineman-de Boer, JA; Mellenbergh, GJ; Wolters, WHG
      Facial attractiveness and facial impairment ratings in children with craniofacial malformations

      CLEFT PALATE-CRANIOFACIAL JOURNAL
    2. Schelhaas, HJ; Ippe, PF; Hageman, G; Sinke, RJ; van der Laan, EN; Beemer, FA
      Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

      JOURNAL OF NEUROLOGY
    3. Mulder, EJH; Beemer, FA; Stoutenbeek, P
      Restrictive dermopathy and fetal behaviour

      PRENATAL DIAGNOSIS
    4. Sjarif, DR; Revesz, T; de Koning, TJ; Duran, M; Beemer, FA; Poll-The, BT
      Isolated glycerol kinase deficiency and Fanconi anemia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Sinke, RJ; Ippel, EF; Diepstraten, CM; Beemer, FA; Wokke, JHJ; van Hilten, BJ; Knoers, NVAM; van Amstel, HKP; Kremer, HPH
      Clinical and molecular correlations in spinocerebellar ataxia type 6 - A study of 24 Dutch families

      ARCHIVES OF NEUROLOGY
    6. van Bokhoven, H; Hamel, BCJ; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, PHG; Vanmolkot, KRJ; van Beusekom, E; van Beersum, SEC; Celli, J; Merkx, GFM; Tenconi, R; Fryns, JP; Verloes, A; Newbury-Ecob, RA; Raas-Rotschild, A; Majewski, F; Beemer, FA; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, JRW; Neri, G; Brunner, HG
      p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Schelhaas, HJ; Ippel, PF; Beemer, FA; Hageman, G
      Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias

      EUROPEAN JOURNAL OF NEUROLOGY
    8. Bignell, GR; Warren, W; Seal, S; Takahashi, M; Rapley, E; Barfoot, R; Green, H; Brown, C; Biggs, PJ; Lakhani, SR; Jones, C; Hansen, J; Blair, E; Hofmann, B; Siebert, R; Turner, G; Evans, DG; Schrander-Stumpel, C; Beemer, FA; van den Ouweland, A; Halley, D; Delpech, B; Cleveland, MG; Leigh, I; Leisti, J; Rasmussen, S; Wallace, MR; Fenske, C; Banerjee, P; Oiso, N; Chaggar, R; Merrett, S; Leonard, N; Huber, M; Hohl, D; Chapman, P; Burn, J; Swift, S; Smith, A; Ashworth, A; Stratton, MR
      Identification of the familial cylindromatosis tumour-suppressor gene

      NATURE GENETICS
    9. van den Boogaard, MJH; Dorland, M; Beemer, FA; van Amstel, HKP
      MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

      NATURE GENETICS
    10. Ausems, MGEM; ten Berg, K; Beemer, FA; Wokke, JHJ
      Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

      NEUROMUSCULAR DISORDERS
    11. Takahashi, M; Rapley, E; Biggs, PJ; Lakhani, SR; Cooke, D; Hansen, J; Blair, E; Hofmann, B; Siebert, R; Turner, G; Evans, DG; Schrander-Stumpel, C; Beemer, FA; van Vloten, WA; Breuning, MH; van den Ouweland, A; Halley, D; Delpech, B; Cleveland, M; Leigh, I; Chapman, P; Burn, J; Hohl, D; Gorog, JP; Seal, S; Mangion, J; Warren, W; Bignell, G; Stratton, MR
      Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

      HUMAN GENETICS
    12. Christiaens, GCML; de Pater, JM; Stoutenbeek, P; Drogtrop, A; Wanders, RJA; Beemer, FA
      First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

      PRENATAL DIAGNOSIS
    13. Marie, S; Flipsen, JWAM; Duran, M; Poll-The, BT; Beemer, FA; Bosschaart, AN; Vincent, MF; Van den Berghe, G
      Prenatal diagnosis in adenylosuccinate lyase deficiency

      PRENATAL DIAGNOSIS
    14. Grosfeld, FJM; Beemer, FA; Lips, CJM; Hendriks, KSWH; ten Kroode, HFJ
      Parents' responses to disclosure of genetic test results of their children

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Grosfeld, FJM; Lips, CJM; Beemer, FA; Blijham, GH; Quirijnen, JMSP; Mastenbroek, MP; ten Kroode, HFJ
      Distress in MEN 2 family members and partners prior to DNA test disclosure

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Sjarif, DR; Dorland, L; Sperl, W; de Koning, TJ; Beemer, FA; Poll-The, BT; Duran, M
      Hyperketonaemia in glycerol kinase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    17. Sjarif, DR; van Amstel, JKP; Duran, M; Beemer, FA; Poll-The, BT
      Isolated and contiguous glycerol kinase gene disorders: A review

      JOURNAL OF INHERITED METABOLIC DISEASE
    18. Goodman, FR; Bacchelli, C; Brady, AF; Brueton, LA; Fryns, JP; Mortlock, DP; Innis, JW; Holmes, LB; Donnenfeld, AE; Feingold, M; Beemer, FA; Hennekam, RCM; Scambler, PJ
      Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Ausems, MGEM; Verbiest, J; Hermans, MMP; Kroos, MA; Beemer, FA; Wokke, JHJ; Sandkuijl, LA; Reuser, AJJ; van der Ploeg, AT
      Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Giordano, PC; Harteveld, CL; Bok, LA; van Delft, P; Batelaan, D; Beemer, FA; Bernini, LF
      A complex haemoglobinopathy diagnosis in a family with both beta(0)- and alpha(0/+)-thalassaemia homozygosity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Bresters, D; Nikkels, PGJ; Meijboom, EJM; Hoorntje, TM; Pals, G; Beemer, FA
      Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

      ACTA PAEDIATRICA
    22. Van Kuilenburg, ABP; Vreken, P; Abeling, NGGM; Bakker, HD; Meinsma, R; Van Lenthe, H; De Abreu, RA; Smeitink, JAM; Kayserili, H; Apak, MY; Christensen, E; Holopainen, I; Pulkki, K; Riva, D; Botteon, G; Holme, E; Tulinius, R; Kleijer, WJ; Beemer, FA; Duran, M; Niezen-Koning, KE; Smit, GPA; Jakobs, C; Smit, LME; Moog, U; Spaapen, LJM; Van Gennip, AH
      Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

      HUMAN GENETICS
    23. Van Royen-Kerkhof, A; Poll-The, BT; Beemer, FA
      Coexistence of Gaucher disease type 1 and Joubert syndrome - Reply

      JOURNAL OF MEDICAL GENETICS
    24. Engelbert, RHH; Beemer, FA; van der Graaf, Y; Helders, PJM
      Osteogenesis imperfecta in childhood: Impairment and disability - A follow-up study

      ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
    25. IPPEL E; PHILIPPENS RMH; SINKE RJ; DIEPSTRATEN CM; HALLEY DJJ; TIJMENSEN ASLN; BEEMER FA; VANNIEUWENHUIZEN O
      GENOTYPE AND PHENOTYPE RELATIONSHIP IN PATIENTS WITH FRIEDREICHS-ATAXIA

      European journal of human genetics
    26. SINKE R; VANDENBOOGAARD MJH; HENNEKAM RCM; DALLINGATHIE GM; BEEMER FA; PEARSON PL; VANAMSTEL JKP
      GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME

      European journal of human genetics
    27. VANNESSELROOIJ BPM; SPLIET W; BEEMER FA
      UNUSUAL ASSOCIATION OF CONGENITAL-MALFORMATIONS - CRANIOSYNOSTOSIS, HEART DEFECT, ABNORMAL INTESTINAL INNERVATION AND UROGENITAL ABNORMALITIES

      Clinical dysmorphology
    28. VREKEN P; VANKUILENBERG ABP; MEINSMA R; BEEMER FA; DURAN M; VANGENNIP AH
      DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI (VOL 21, PG 276, 1998)

      Journal of inherited metabolic disease
    29. VREKEN P; VANKUILENBURG ABP; MEINSMA R; BEEMER FA; DURAN M; VANGENNIP AH
      DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI

      Journal of inherited metabolic disease
    30. SJARIF DR; SINKE RJ; DURAN M; BEEMER FA; KLEIJER WJ; VANAMSTEL JKP; POLLTHE BT
      CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY

      Journal of Medical Genetics
    31. VANROYENKERKHOF A; POLLTHE BT; KLEIJER W; VANDIGGELEN OP; AERTS JMFG; HOPWOOD JJ; BEEMER FA
      COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME

      Journal of Medical Genetics
    32. GILTAY JC; BOKMA JA; DEFRANCE H; BEEMER FA
      VSD, HYPOSPADIAS AND NORMAL PSYCHOMOTOR DEVELOPMENT IN A PATIENT WITHINV DUP 8(Q13-Q21.2)

      Clinical genetics
    33. Engelbert, RHH; Pruijs, HEH; Beemer, FA; Helders, PJM
      Osteogenesis imperfecta in childhood: Treatment strategies

      ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
    34. SMITT JHS; VANASPEREN CJ; NIESSEN CM; BEEMER FA; VANESSEN AJ; HULSMANS RFHJ; ORANJE AP; STEIJLEN PM; WESBYVANSWAAY E; TAMMINGA P; BRESLAUSIDERIUS EJ
      RESTRICTIVE DERMOPATHY - REPORT OF 12 CASES

      Archives of dermatology
    35. ENGELBERT RHH; GERVER WJM; BRESLAUSIDERIUS LJ; VANDERGRAAF Y; PRUIJS HEH; VANDOORNE JM; BEEMER FA; HELDERS PJM
      SPINAL COMPLICATIONS IN OSTEOGENESIS IMPERFECTA - 47 PATIENTS 1-16 YEARS OF AGE

      Acta orthopaedica Scandinavica
    36. GILTAY JC; BRUNT T; BEEMER FA; WIT JM; VANAMSTEL HKP; PEARSON PL; WIJMENGA C
      POLYMORPHIC DETECTION OF A PARTHENOGENETIC MATERNAL AND DOUBLE PATERNAL CONTRIBUTION TO A 46,XX 46,XY HERMAPHRODITE/

      American journal of human genetics
    37. GROSFELD FJM; LIPS CJM; BEEMER FA; VANSPIJKER HG; BROUWERSSMALBRAAK GJ; TENKROODE HFJ
      PSYCHOLOGICAL RISKS OF GENETICALLY TESTING CHILDREN FOR A HEREDITARY CANCER SYNDROME

      Patient education and counseling
    38. ZWAMBORNHANSSEN AMN; BIJLSMA JB; HENNEKAM EFAM; LINDHOUT D; BEEMER FA; BAKKER E; KLEIJER WJ; DEFRANCE HF; DEDIESMULDERS CEM; DURAN M; VANGENNIP AH; VANMENS JT; PEARSON PL; MANTEL G; VERHAGE RE; GERAEDTS JPM
      THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES

      American journal of medical genetics
    39. 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
    40. LIEM MSL; VANDERGRAAF Y; BEEMER FA; VANVROONHOVEN TJMV
      INCREASED RISK FOR INGUINAL-HERNIA IN PATIENTS WITH EHLERS-DANLOS-SYNDROME

      Surgery
    41. ENGELBERT RHH; VANDERGRAAF Y; VANEMPELEN R; BEEMER FA; HELDERS PJM
      OSTEOGENESIS IMPERFECTA IN CHILDHOOD - IMPAIRMENT AND DISABILITY

      Pediatrics
    42. RYAN AK; GOODSHIP JA; WILSON DI; PHILIP N; LEVY A; SEIDEL H; SCHUFFENHAUER S; OECHSLER H; BELOHRADSKY B; PRIEUR M; AURIAS A; RAYMOND FL; CLAYTONSMITH J; HATCHWELL E; MCKEOWN C; BEEMER FA; DALLAPICCOLA B; NOVELLI G; HURST JA; IGNATIUS J; GREEN AJ; WINTER RM; BRUETON L; BRONDUMNIELSEN K; STEWART F; VANESSEN T; PATTON M; PATERSON J; SCAMBLER PJ
      SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY

      Journal of Medical Genetics
    43. GILTAY JC; BRUNT T; BEEMER FA; WIT JM; VANAMSTEL HKP; PEARSON PL; WIJMENGA C
      ANALYSIS OF DNA POLYMORPHISMS IN A PATIENT WITH AMBIGUOUS GENITALIA AND A 46,XX 46,XY MOSAICISM SUGGESTS A HAPLOID MATERNAL GENETIC CONTRIBUTION/

      American journal of human genetics
    44. VANAMSTEL JKP; SJARIF DR; DURAN M; KLEIJER WJ; BEEMER FA; SINKE RJ; POLL BT
      NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY

      American journal of human genetics
    45. AUSEMS MGEM; PALS G; BEEMER FA; NICHOLLS AC
      INVOLVEMENT OF ABNORMAL TYPE-V COLLAGEN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA

      American journal of human genetics
    46. BRESLAUSIDERIUS LJ; BEEMER FA; BOOM BW
      PILI-BIFURCATI - OCCURRING IN ASSOCIATION WITH THE MOSAIC TRISOMY-8 SYNDROME

      Clinical dysmorphology
    47. ROSSI A; VANDERHARTEN HJ; BEEMER FA; KLEIJER WJ; GITZELMANN R; STEINMANN B; SUPERTIFURGA A
      PHENOTYPIC AND GENOTYPIC OVERLAP BETWEEN ATELOSTEOGENESIS TYPE-2 AND DIASTROPHIC DYSPLASIA

      Human genetics
    48. LIPS CJM; LANDSVATER RM; HOPPENER JWM; GEERDINK RA; BLIJHAM GH; VANVEEN JMJS; FELDBERG MAM; VANGILS APG; HOOGENBOOM H; BERENDS MJH; BEEMER FA; VANAMSTEL HKP; VANVROONHOVEN TJMV; VROOM TM
      FROM MEDICAL HISTORY AND BIOCHEMICAL TESTS TO PRESYMPTOMATIC TREATMENT IN A LARGE MEN 2A FAMILY

      Journal of internal medicine
    49. GERRETSEN AL; BEEMER FA; DEENSTRA W; HENNEKAM FAM; VANVLOTEN WA
      FAMILIAL CUTANEOUS CYLINDROMAS - INVESTIGATIONS IN 5 GENERATIONS OF AFAMILY

      Journal of the American Academy of Dermatology
    50. DEKONING TJ; SANDKUIJL LA; DESCHRYVER JEAR; HENNEKAM EAM; BEEMER FA; HOUWEN RHJ
      AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

      American journal of medical genetics
    51. GERAEDTS JPM; BIJLSMA MB; HENNEKAM FAM; LINDHOUT D; BEEMER FA; BAKKER E; KLEIJER WJ; DEFRANCE HF; DEDIESMULDERS CEM; DURAN M; VANGENNIP AH; VANMENS JT; MANTEL G; VERHAGE RE; ZWAMBORNHANSSEN AMN
      UNIFORM GENETIC DIAGNOSIS CODE REGISTRATION

      American journal of human genetics
    52. SCHALKVANDERWEIDE Y; BEEMER FA; FABER JAJ; BOSMAN F
      SYMPTOMATOLOGY OF PATIENTS WITH OLIGODONTIA

      Journal of oral rehabilitation
    53. KLEIJER WJ; BEEMER FA; BOOM BW
      INTERMITTENT HAIR LOSS IN A CHILD WITH PIBI(D)S-SYNDROME AND TRICHOTHIODYSTROPHY WITH DEFECTIVE-DNA REPAIR XERODERMA-PIGMENTOSUM GROUP-D

      American journal of medical genetics
    54. BEEMER FA; KOZLOWSKI KS
      ADDITIONAL CASE OF OPSISMODYSPLASIA SUPPORTING AUTOSOMAL RECESSIVE INHERITANCE

      American journal of medical genetics
    55. LIPS CJM; LANDSVATER RM; HOPPENER JWM; GEERDINK RA; BLIJHAM G; VANVEEN JMJS; VANGILS APG; DEWIT MJ; ZEWALD RA; BERENDS MJH; BEEMER FA; BROUWERSSMALBRAAK J; JANSEN RPM; VANAMSTEL HKP; VANVROONHOVEN TJM; VROOM TM
      CLINICAL SCREENING AS COMPARED WITH DNA ANALYSIS IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A

      The New England journal of medicine
    56. SCHALKVANDERWEIDE Y; STEEN WHA; BEEMER FA; BOSMAN F
      REDUCTIONS IN SIZE AND LEFT-RIGHT ASYMMETRY OF TEETH IN HUMAN OLIGODONTIA

      Archives of oral biology
    57. BRESLAUSIDERIUS EJ; WIJNEN JT; DAUWERSE JG; DEPATER JM; BEEMER FA; KHAN PM
      PATERNAL DUPLICATION OF CHROMOSOME-5Q11.2-5Q14 IN A MALE BORN WITH CRANIOSTENOSIS, EAR TAGS, KIDNEY DYSPLASIA AND SEVERAL OTHER ANOMALIES

      Human genetics
    58. ESPEEL M; HEIKOOP JC; SMEITINK JAM; BEEMER FA; DECRAEMER D; VANDENBERG M; HASHIMOTO T; WANDERS RJA; SCHUTGENS RBH; POLLTHE BT; ROELS F
      CYTOPLASMIC CATALASE AND GHOSTLIKE PEROXISOMES IN THE LIVER FROM A CHILD WITH ATYPICAL CHONDRODYSPLASIA PUNCTATA

      Ultrastructural pathology


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Documento generato il 11/08/20 alle ore 03:53:25