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| Articles |
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| A likelihood-based extended admixture model of oligogenic inheritance in 'model-based' and 'model-free' analysis FREE |
| Joseph D Terwilliger |
| Abstract | PDF |
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| 399 |
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| Isolation and chromosomal localization of a new human retinoblastoma binding protein 2 homologue 1a (RBBP2H1A) FREE |
| Vladimir Kashuba, Alexei Protopopov, Raf Podowski, Rinat Gizatullin, Jingfeng Li, George Klein, Claes Wahlestedt & Eugene Zabarovsky |
| Abstract | PDF |
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| 407 |
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| Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene FREE |
Stefanie Weber, Katrin Hoffmann, Nikola Jeck, Kathrin Saar, Martin Boeswald, Eberhard Kuwertz-Broeking, Ivan IC Meij, Nine VAM Knoers, Pierre Cochat, Tereza  uláková, Klaus E Bonzel, Marianne Soergel, Friedrich Manz, Karl Schaerer, Hannsjoerg W Seyberth, André Reis & Martin Konrad |
| Abstract | PDF |
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| 414 |
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| Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 FREE |
| Loreto Martorell, Darren G Monckton, José Gamez & Montserrat Baiget |
| Abstract | PDF |
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| 423 |
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| Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population FREE |
| Annette Haagerup, Jens M Hertz, Mogens F Christensen, Helle Binderup & Torben A Kruse |
| Abstract | PDF |
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| 431 |
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| Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus FREE |
| Avital Adato, Leonid Raskin, Christine Petit & Batsheva Bonne-Tamir |
| Abstract | PDF |
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| 437 |
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| An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family FREE |
| Alessandra Baumer, Serena Belli, Ralph M Trüeb & Albert Schinzel |
| Abstract | PDF |
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| 443 |
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| X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations FREE |
| Karen Woodward, Karen Kirtland, Stephen Dlouhy, Wendy Raskind, Thomas Bird, Sue Malcolm & Dvorah Abeliovich |
| Abstract | PDF |
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| 449 |
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| Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene FREE |
| Sigrid Tinschert, Ilka Naumann, Elisabeth Stegmann, Annegret Buske, Dieter Kaufmann, Gundula Thiel & Dieter E Jenne |
| Abstract | PDF |
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| 455 |
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| Combined segregation and linkage analysis of 59 Hodgkin's disease families indicates the role of HLA determinants FREE |
| Yin Yao Shugart & Andrew Collins |
| Abstract | PDF |
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| 460 |
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| Short Report |
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| A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome FREE |
| Lisbeth Tranebjærg, Ben CJ Hamel, Fons JM Gabreels, Willy O Renier & Marijke Van Ghelue |
| Abstract | PDF |
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| 464 |
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| Erratum |
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| Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family FREE |
| David P Kelsell, Amanda L Wilgoss, Gabriela Richard, Howard P Stevens, Colin S Munro & Irene M Leigh |
| Abstract | PDF |
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| 468 |
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| June 2000, Volume 8, Number 6 |
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