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La ricerca find articoli where authors phrase all words ' Van Maldergem, L' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Grohmann, K; Schuelke, M; Diers, A; Hoffmann, K; Lucke, B; Adams, C; Bertini, E; Leonhardt-Horti, H; Muntoni, F; Ouvrier, R; Pfeufer, A; Rossi, R; Van Maldergem, L; Wilmshurst, JM; Wienker, TR; Sendtner, M; Rudnik-Schoneborn, S; Zerres, K; Hubner, C
      Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

      NATURE GENETICS
    2. Magre, J; Delepine, M; Khallouf, E; Gedde-Dahl, T; Van Maldergem, L; Sobel, E; Papp, J; Meier, M; Megarbane, A; Lathrop, M; Capeau, J
      Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

      NATURE GENETICS
    3. Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K
      Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. 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
    5. Verloes, A; Gillerot, Y; Van Maldergem, L; Schoos, R; Herens, C; Jamar, M; Dideberg, V; Lesenfants, S; Koulischer, L
      Major decrease in the incidence of trisomy21 at birth in south Belgium: mass impact of triple test?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Nishimura, DY; Searby, CC; Carmi, R; Elbedour, K; Van Maldergem, L; Fulton, AB; Lam, BL; Powell, BR; Swiderski, RE; Bugge, KE; Haider, NB; Kwitek-Black, AE; Ying, LH; Duhl, DM; Gorman, SW; Heon, E; Iannaccone, A; Bonneau, D; Biesecker, LG; Jacobson, SG; Stone, EM; Sheffield, VC
      Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

      HUMAN MOLECULAR GENETICS
    7. De Baere, E; Dixon, MJ; Small, KW; Jabs, EW; Leroy, BP; Devriendt, K; Gillerot, Y; Mortier, G; Meire, F; Van Maldergem, L; Courtens, W; Hjalgrim, H; Huang, S; Liebaers, I; Van Regemorter, N; Touraine, P; Praphanphoj, V; Verloes, A; Udar, N; Yellore, V; Chalukya, M; Yelchits, S; De Paepe, A; Kuttenn, F; Fellous, M; Veitia, R; Messiaen, L
      Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

      HUMAN MOLECULAR GENETICS
    8. Fransen, E; Verstreken, M; Bom, SJH; Lemaire, F; Kemperman, MH; De Kok, YJM; Wuyts, FL; Verhagen, WIM; Huygen, PLM; McGuirt, WT; Smith, RJH; Van Maldergem, L; Declau, F; Cremers, CWRJ; Van de Heyning, PH; Cremers, FPM; Van Camp, G
      A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

      JOURNAL OF MEDICAL GENETICS
    9. Sprecher, E; Chavanas, S; DiGiovanna, JJ; Amin, S; Nielsen, K; Prendiville, JS; Silverman, R; Esterly, NB; Spraker, MK; Guelig, E; de Luna, ML; Williams, ML; Buehler, B; Siegfried, EC; Van Maldergem, L; Pfendner, E; Bale, SJ; Uitto, J; Hovnanian, A; Richard, G
      The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    10. Janssens, K; Gershoni-Baruch, R; Guanabens, N; Migone, N; Ralston, S; Bonduelle, M; Lissens, W; Van Maldergem, L; Vanhoenacker, F; Verbruggen, L; Van Hul, W
      Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease

      NATURE GENETICS
    11. Blouin, JL; Meeks, M; Radhakrishna, U; Sainsbury, A; Gehring, C; Sail, GD; Bartoloni, L; Dombi, V; O'Rawe, A; Walne, A; Chung, E; Afzelius, BA; Armengot, M; Jorissen, M; Schidlow, DV; van Maldergem, L; Walt, H; Gardiner, RM; Probst, D; Guerne, PA; Delozier-Blanchet, CD; Antonarakis, SE
      Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    12. Van Maldergem, L; Tuerlinckx, D; Wanders, RJ; Vianey-Saban, C; Van Hoof, F; Martin, JJ; Fourneau, C; Gillerot, Y; Bachy, A
      Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

      EUROPEAN JOURNAL OF PEDIATRICS
    13. de Koning, TJ; Jaeken, J; Pineda, M; Van Maldergem, L; Poll-The, BT; van der Knaap, MS
      Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

      NEUROPEDIATRICS
    14. Dan, B; Boyd, SG; Christiaens, F; Courtens, W; Van Maldergem, L; Kahn, A
      Atypical features in Angelman syndrome due to imprinting defect or uniparental disomy of chromosome 15

      NEUROPEDIATRICS
    15. Monier, A; Van Maldergem, L; Stevens, R
      Association of cleft palate with Sprengel anomaly: Confirmation of the Hodgson-Chiu syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Janssens, K; Gershoni-Baruch, R; Van Hul, E; Brik, R; Guanabens, N; Migone, N; Verbruggen, LA; Ralston, SH; Bonduelle, M; Van Maldergem, L; Vanhoenacker, F; Van Hul, W
      Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

      JOURNAL OF MEDICAL GENETICS
    17. Klomp, LWJ; de Koning, TJ; Malingre, HEM; van Beurden, EACM; Brink, M; Opdam, FL; Duran, M; Jaeken, J; Pineda, M; van Maldergem, L; Poll-The, BT; van den Berg, IET; Berger, R
      Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Glaser, RL; Jiang, W; Boyadjiev, SA; Tran, AK; Zachary, AA; Van Maldergem, L; Johnson, M; Walsh, S; Oldridge, M; Wall, SA; Wilkie, AOM; Jabs, EW
      Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Munroe, PB; Olgunturk, RO; Fryns, JP; Van Maldergem, L; Ziereisen, F; Yuksel, B; Gardiner, RM; Chung, E
      Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

      NATURE GENETICS
    20. Philippe, A; Martinez, M; Guilloud-Bataille, M; Gillberg, C; Rastam, M; Sponheim, E; Coleman, M; Zappella, M; Aschauer, H; Van Maldergem, L; Penet, C; Feingold, J; Brice, A; Leboyer, M
      Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999)

      HUMAN MOLECULAR GENETICS
    21. Romain, M; Awoust, J; Dugauquier, C; Van Maldergem, L
      Prenatal ultrasound detection of congenital cataract in trisomy 21

      PRENATAL DIAGNOSIS
    22. De Jonghe, P; Timmerman, V; Ceuterick, C; Nelis, E; De Vriendt, E; Lofgren, A; Vercruyssen, A; Verellen, C; Van Maldergem, L; Martin, JJ; Van Broeckhoven, C
      The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene isassociated with a clinically distinct Charcot-Marie-Tooth phenotype

      BRAIN
    23. Bamshad, M; Le, T; Watkins, WS; Dixon, ME; Kramer, BE; Roeder, AD; Carey, JC; Root, S; Schinzel, A; Van Maldergem, L; Gardner, RJM; Lin, RC; Seidman, CE; Seidman, JG; Wallerstein, R; Moran, E; Sutphen, R; Campbell, CE; Jorde, LB
      The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. Hardcastle, AJ; Thiselton, DL; Van Maldergem, L; Saha, BK; Jay, M; Plant, C; Taylor, R; Bird, AC; Bhattacharya, S
      Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

      AMERICAN JOURNAL OF HUMAN GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 04:38:20