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20 risultati 1 2
Postprint
Consortium of Swiss Academic Libraries

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

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Consortium of Swiss Academic Libraries

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets

Fort, Alexandre ; Panousis, Nikolaos I. ; Garieri, Marco ; Antonarakis, Stylianos E. ; Lappalainen, Tuuli ; Dermitzakis, Emmanouil T. ; Delaneau, Olivier ; Stegle, Oliver ; Stegle, Oliver

In: Bioinformatics, 2017, vol. 33, no. 12, p. 1895-1897

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Consortium of Swiss Academic Libraries

Genomic structure of a copy of the human TPTE gene which encompasses 87kb on the short arm of chromosome 21

Guipponi, Michel ; Yaspo, Marie-Laure ; Riesselman, Lisa ; Chen, Haiming ; De Sario, Albertina ; Roizès, Gérard ; Antonarakis, Stylianos E.

In: Human Genetics, 2000, vol. 107, no. 2, p. 127-131

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Consortium of Swiss Academic Libraries

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

Chrast, Roman ; Scott, Hamish S. ; Madani, Rime ; Huber, Lars ; Wolfer, David P. ; Prinz, Marco ; Aguzzi, Adriano ; Lipp, Hans-Peter ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2000, vol. 9, no. 12, p. 1853-1864

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Consortium of Swiss Academic Libraries

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

Kazadi, Kayole ; Loeuillet, Corinne ; Deutsch, Samuel ; Ciuffi, Angela ; Muñoz, Miguel ; Beckmann, Jacques S. ; Moradpour, Darius ; Antonarakis, Stylianos E. ; Telenti, Amalio

In: Nucleic Acids Research, 2008, vol. 36, no. 21, p. 6918-6925

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Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Cossec, Jack-Christophe ; Lavaur, Jérémie ; Berman, Diego E. ; Rivals, Isabelle ; Hoischen, Alexander ; Stora, Samantha ; Ripoll, Clémentine ; Mircher, Clotilde ; Grattau, Yann ; OlivoMarin, Jean-Christophe ; de Chaumont, Fabrice ; Lecourtois, Magalie ; Antonarakis, Stylianos E. ; Veltman, Joris A. ; Delabar, Jean M. ; Duyckaerts, Charles ; Di Paolo, Gilbert ; Potier, Marie-Claude

In: Human Molecular Genetics, 2012, vol. 21, no. 14, p. 3156-3172

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Consortium of Swiss Academic Libraries

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

Pereira, Patricia Lopes ; Magnol, Laetitia ; Sahún, Ignasi ; Brault, Véronique ; Duchon, Arnaud ; Prandini, Paola ; Gruart, Agnès ; Bizot, Jean-Charles ; Chadefaux-Vekemans, Bernadette ; Deutsch, Samuel ; Trovero, Fabrice ; Delgado-García, José María ; Antonarakis, Stylianos E. ; Dierssen, Mara ; Herault, Yann

In: Human Molecular Genetics, 2009, vol. 18, no. 24, p. 4756-4769

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Consortium of Swiss Academic Libraries

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Castelo, Robert ; Reymond, Alexandre ; Wyss, Carine ; Câmara, Francisco ; Parra, Genís ; Antonarakis, Stylianos E. ; Guigó, Roderic ; Eyras, Eduardo

In: Nucleic Acids Research, 2005, vol. 33, no. 6, p. 1935-1939

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Consortium of Swiss Academic Libraries

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

Talbot, C.Conover ; Avramopouls, Dimitris ; Gerken, Steven ; Chakravarti, Aravinda ; Armour, John A. ; Matsunami, Norisada ; White, Ray ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 1995, vol. 4, no. 7, p. 1193-1199

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Consortium of Swiss Academic Libraries

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

Deutsch, Samuel ; Lyle, Robert ; Dermitzakis, Emmanouil T. ; Attar, Homa ; Subrahmanyan, Lakshman ; Gehrig, Corinne ; Parand, Leila ; Gagnebin, Maryline ; Rougemont, Jacques ; Jongeneel, C. Victor ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2005, vol. 14, no. 23, p. 3741-3749

20 risultati 1 2