AAAAAA

   
Results: 1-25 | 26-37 |
Results: 26-37/37
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies
Authors: Bondurand, N Kuhlbrodt, K Pingault, V Enderich, J Sajus, M Tommerup, N Warburg, M Hennekam, RCM Read, AP Wegner, M Goossens, N
Citation: N. Bondurand et al., A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies, HUM MOL GEN, 8(9), 1999, pp. 1785-1789
Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?
Authors: Hennekam, RCM Kwa, VIH van Amerongen, A
Citation: Rcm. Hennekam et al., Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?, CLIN DYSMOR, 8(2), 1999, pp. 111-115
Polytopic anomalies with agenesis of the lower vertebral column
Authors: Bohring, A Lewin, SO Reynolds, JF Voigtlander, T Rittinger, O Carey, JC Kopernik, M Smith, R Zackai, EH Leonard, NJ Gritter, HL Bamforth, JS Okun, N McLeod, DR Super, M Powell, P Mundlos, S Hennekam, RCM van Langen, IM Viskochil, DH Wiedemann, HR Opitz, JM
Citation: A. Bohring et al., Polytopic anomalies with agenesis of the lower vertebral column, AM J MED G, 87(2), 1999, pp. 99-114
Associations between chromosomal anomalies and congenital heart defects: Adatabase search
Authors: van Karnebeek, CDM Hennekam, RCM
Citation: Cdm. Van Karnebeek et Rcm. Hennekam, Associations between chromosomal anomalies and congenital heart defects: Adatabase search, AM J MED G, 84(2), 1999, pp. 158-166
Reply to letter to the editor of Jean-Pierre Fryns - "On the nosology of severe acrofacial dysostosis with limb deficiency"
Authors: Oostra, RJ Baljet, B Hennekam, RCM
Citation: Rj. Oostra et al., Reply to letter to the editor of Jean-Pierre Fryns - "On the nosology of severe acrofacial dysostosis with limb deficiency", AM J MED G, 82(3), 1999, pp. 283-283
Costello syndrome: Report and review
Authors: van Eeghen, AM van Gelderen, I Hennekam, RCM
Citation: Am. Van Eeghen et al., Costello syndrome: Report and review, AM J MED G, 82(2), 1999, pp. 187-193
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Authors: Celli, J Duijf, P Hamel, BCJ Bamshad, M Kramer, B Smits, APT Newbury-Ecob, R Hennekam, RCM Van Buggenhout, G van Haeringen, B Woods, CG van Essen, AJ de Waal, R Vriend, G Haber, DA Yang, A McKeon, F Brunner, HG van Bokhoven, H
Citation: J. Celli et al., Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome, CELL, 99(2), 1999, pp. 143-153
Type III collagen deficiency in saccular intracranial aneurysms - Defect in gene regulation?
Authors: van den Berg, JSP Pals, G Arwert, F Hennekam, RCM Albrecht, KW Westerveld, A Limburg, M
Citation: Jsp. Van Den Berg et al., Type III collagen deficiency in saccular intracranial aneurysms - Defect in gene regulation?, STROKE, 30(8), 1999, pp. 1628-1631
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
Authors: Bijlsma, EK Aalfs, CM Sluijter, S Luttikhuis, MEMO Trembath, RC Hoovers, JMN Hennekam, RCM
Citation: Ek. Bijlsma et al., Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype, J MED GENET, 36(8), 1999, pp. 604-609
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
Authors: Van den Berg, H Hennekam, RCM
Citation: H. Van Den Berg et Rcm. Hennekam, Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome, J MED GENET, 36(10), 1999, pp. 799-800
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
Authors: Knight, SW Heiss, NS Vulliamy, TJ Aalfs, CM McMahon, C Richmond, P Jones, A Hennekam, RCM Poustka, A Mason, PJ Dokal, I
Citation: Sw. Knight et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, BR J HAEM, 107(2), 1999, pp. 335-339
Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6
Authors: Groen, SE Drewes, JG de Boer, EG Hoovers, JMN Hennekam, RCM
Citation: Se. Groen et al., Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6, AM J MED G, 80(5), 1998, pp. 448-453
Risultati: 1-25 | 26-37 |