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 TitleAuthors / EditorsDate
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A cSNP map and database for human chromosome 21 Deutsch, Samuel; Iseli, C.; Bucher, P.; Antonarakis, Stylianos; Scott, Hamish Steele 2001
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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos 2001
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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre 2002
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Numerous potentially functional but non-genic conserved sequences on human chromosome 21 Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos 2002
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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos 2002
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Chromosome 21 and Down syndrome: the post-sequence era Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil 2003
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome Lyle, Robert; Gehrig, Corinne; Neergaard-Henrichsen, Charlotte; Deutsch, Samuel; Antonarakis, Stylianos 2004
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Association of the connexin36 gene with juvenile myoclonic epilepsy Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo 2004
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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Chromosome 21 and down syndrome: from genomics to pathophysiology Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel 2004
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Detection of aneuploidies by paralogous sequence quantification Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos 2004
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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos 2004
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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe 2004
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Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Deutsch, Samuel; Lyle, Robert; Dermitzakis, Emmanouil; Attar, Homa; ... Antonarakis, Stylianos 2005
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Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass Ferrari, Serge Livio; Deutsch, Samuel; Antonarakis, Stylianos 2005
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LRP5 gene polymorphisms and idiopathic osteoporosis in men Ferrari, Serge Livio; Deutsch, Samuel; Baudoin, C.; Cohen-Solal, M.; ... de Vernejoul, M. C. 2005
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Promoter polymorphisms and allelic imbalance in ABCB1 expression Loeuillet, Corinne; Weale, Michael; Deutsch, Samuel; Rotger, Margalida; ... Telenti, Amalio 2007
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