Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F. Onuchic Michael Mrug; Xiaoying Hou; Thomass Eggermann; Carsten Bergmann; Klaus Zerres; Ellis D Avner; Laszlo Furu Somlo. Stefan; Yasuyuki Nagasawa; Gregory G Germino; Lisa M. Guay WoodfordAmerican Journal of Medical Genetics New York v. 110, p. 346-352, 2002New York 2002Item não circula. Consulte sua biblioteca.(Acessar) |
2 |
Material Type: Artigo
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Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F. Onuchic Michael Mrug; Xiaoying Hou; Thomass Eggermann; Carsten Bergmann; Klaus Zerres; Ellis D Avner; Laszlo Furu Somlo. Stefan; Yasuyuki Nagasawa; Gregory G Germino; Lisa M. Guay WoodfordAmerican Journal of Medical Genetics New York v. 110, p. 346-352, 2002New York 2002Item não circula. Consulte sua biblioteca.(Acessar) |
3 |
Material Type: Artigo
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PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeatsLuiz F. Onuchic Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner Zerres. Klaus; Lisa M. Guay Woodford; Stefan Somlo; Gregory G GerminoAmerican Journal of Human Genetics Baltimore v. 70, p. 1305-1317, 2002Baltimore 2002Localização: FM - Fac. Medicina (BCSEP 2002 239 )(Acessar) |
4 |
Material Type: Artigo
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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa Sonja Matthiesen; Luiz F Onuchic; Xiaoying Hou; Carsten Bergmann; Ernie Esquivel; Jan Senderek; Zhiyoung Ren; Raoul Zeltner; Laszlo Furu; Ellis Avner; Markus Moser; Stefan Somlo; Lisa Guay Woodford; Reinhard Büttner; Klaus Zerres; Gregory G GerminoJournal of the American Society of Nephrology Florida v. 13, n 9, p. 2239-2245, september, 2002Florida 2002Item não circula. Consulte sua biblioteca.(Acessar) |
5 |
Material Type: Artigo
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Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutationLaszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)Journal of the American Society of Nephrology Philadelphia, 2003 v. 14Philadelphia 2003Localização: FM - Fac. Medicina (BCBIB )(Acessar) |
6 |
Material Type: Artigo
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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnick-Schöneborn; Laszlo Furu; Monica de Baca; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)Journal of the American Society of Nephrology Philadelphia, 2003 v. 14Philadelphia 2003Localização: FM - Fac. Medicina (BCBIB )(Acessar) |
7 |
Material Type: Artigo
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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann Jan Senderek; Fabian Kupper; Frank Schneider; Christian Dornia; Ellen Windelen; Thomas Eggermann; Sabine Rudnik-Schoneborn; Jutta Kirfel; Laszlo Furu; Luiz F Onuchic; Sandro Rossetti; Peter C Harris; Stefan Somlo; Lisa Guay-Woodford; Gregory G Germino; Markus Moser; Reinhard Buttner; Klaus ZerresmHuman mutation New York v. 23, n. 5, p. 453-463, 2004New York 2004Acesso online. A biblioteca também possui exemplares impressos. |
8 |
Material Type: Artigo
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Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutationLaszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)Journal of the American Society of Nephrology Philadelphia, 2003 v. 14Philadelphia 2003Localização: FM - Fac. Medicina (BCBIB )(Acessar) |
9 |
Material Type: Artigo
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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnick-Schöneborn; Laszlo Furu; Monica de Baca; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)Journal of the American Society of Nephrology Philadelphia, 2003 v. 14Philadelphia 2003Localização: FM - Fac. Medicina (BCBIB )(Acessar) |
10 |
Material Type: Artigo
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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa Sonja Matthiesen; Luiz F Onuchic; Xiaoying Hou; Carsten Bergmann; Ernie Esquivel; Jan Senderek; Zhiyoung Ren; Raoul Zeltner; Laszlo Furu; Ellis Avner; Markus Moser; Stefan Somlo; Lisa Guay Woodford; Reinhard Büttner; Klaus Zerres; Gregory G GerminoJournal of the American Society of Nephrology Florida v. 13, n 9, p. 2239-2245, september, 2002Florida 2002Item não circula. Consulte sua biblioteca.(Acessar) |