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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover
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1
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Tompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.

American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Krakow, Deborah ; Vriens, Joris ; Camacho, Natalia ; Luong, Phi ; Deixler, Hannah ; Funari, Tara L. ; Bacino, Carlos A. ; Irons, Mira B. ; Holm, Ingrid A. ; Sadler, Laurie ; Okenfuss, Ericka B. ; Janssens, Annelies ; Voets, Thomas ; Rimoin, David L. ; Lachman, Ralph S. ; Nilius, Bernd ; Cohn, Daniel H.

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

Merrill, Amy E. ; Merriman, Barry ; Farrington-Rock, Claire ; Camacho, Natalia ; Sebald, Eiman T. ; Funari, Vincent A. ; Schibler, Matthew J. ; Firestein, Marc H. ; Cohn, Zachary A. ; Priore, Mary Ann ; Thompson, Alicia K. ; Rimoin, David L. ; Nelson, Stanley F. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-04, Vol.84 (4), p.542-549 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young Erin

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre

American journal of human genetics, 2021-05, Vol.108 (5), p.857-873 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Tompson, Stuart W. ; Merriman, Barry ; Funari, Vincent A. ; Fresquet, Maryline ; Lachman, Ralph S. ; Rimoin, David L. ; Nelson, Stanley F. ; Briggs, Michael D. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-01, Vol.84 (1), p.72-79 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A. ; Schmidt, Ellen M. ; Bizon, Chris ; Jun, Goo ; Auer, Paul ; Li, Kuo-ping ; Locke, Adam ; Rivas, Manuel A. ; Feitosa, Mary F. ; Zhang, Qunyuan ; Huffman, Jennifer E. ; Crosby, Jacy ; Robinson, Jennifer G. ; Crosslin, David R. ; Rosenthal, Elisabeth A. ; Tsai, Michael ; Rieder, Mark J. ; Fox, Ervin R. ; van Duijn, Cornelia M. ; Taylor, Herman A. ; Loos, Ruth J.F. ; Ballantyne, Christie M. ; Reiner, Alexander P. ; Cupples, L. Adrienne ; Kang, Hyun Min ; Lettre, Guillaume ; Rader, Daniel J. ; Reilly, Muredach P. ; Stoletzki, Nina ; Barr, R. Graham ; Benjamin, Emelia J. ; Carr, Jeff ; Dupuis, Josée ; Ellis, Jaclyn ; Fornage, Myriam ; Goff, David ; Grody, Wayne ; Heard-Costa, Nancy L. ; Levy, Daniel ; Li, Dalin ; Loria, Cay ; Mackey, Rachel ; Quinlan, Aaron R. ; Rice, Kenneth ; Sanders, Jill P. ; Tracy, Russell P. ; Tsai, Michael Y. ; Wassel, Chrstina L. ; Watson, Karol ; Wilson, Gregory ; Wilson, James G. ; Zakai, Neil A. ; Nalls, Michael ; Bamshad, Michael J. ; Accurso, Frank ; Beaty, Terri ; Caplan, Daniel ; Chidekel, Aaron ; Christiani, David C. ; De Paula, Alicia ; Gutierrez, Hector ; Hassoun, Paul M. ; Hiatt, Peter ; Hummer, Laura K. ; Kim, Yoonhee ; Lin, Xihong ; Louie, Tin L. ; Mathias, Rasika A. ; McNamara, John ; McNamara, Sharon ; Nielson, Dennis ; Orenstein, David ; O’Sullivan, Brian ; Passero, Mary Ann ; Perkett, Elizabeth ; Spencer, Terry ; Tabor, Holly K. ; Weiss, Robert ; Wigley, Fred ; Wise, Robert A. ; Wurfel, Mark M. ; Eichler, Evan E. ; Fu, Wenqing ; Smith, Joshua D. ; Tennessen, Jacob A. ; Peters, Ulrike ; Brzyski, Robert ; Curb, J. David ; Eaton, Charles B. ; Heiss, Gerardo ; Johnson, Karen C. ; Lasser, Norman ; Lin, Dan-Yu ; Logsdon, Benjamin A. ; Manson, JoAnn E. ; Martin, Lisa ; Stein, Evan ; Applebaum-Bowden, Deborah ; Paltoo, Dina N. ; Sturcke, Anne

American journal of human genetics, 2014-02, Vol.94 (2), p.233-245 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Rosenthal, Elisabeth A. ; Ranchalis, Jane ; Crosslin, David R. ; Burt, Amber ; Brunzell, John D. ; Motulsky, Arno G. ; Nickerson, Deborah A. ; Wijsman, Ellen M. ; Jarvik, Gail P.

American journal of human genetics, 2013-12, Vol.93 (6), p.1035-1045 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
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Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Knowles, Michael R. ; Ostrowski, Lawrence E. ; Loges, Niki T. ; Hurd, Toby ; Leigh, Margaret W. ; Huang, Lu ; Wolf, Whitney E. ; Carson, Johnny L. ; Hazucha, Milan J. ; Yin, Weining ; Davis, Stephanie D. ; Dell, Sharon D. ; Ferkol, Thomas W. ; Sagel, Scott D. ; Olivier, Kenneth N. ; Jahnke, Charlotte ; Olbrich, Heike ; Werner, Claudius ; Raidt, Johanna ; Wallmeier, Julia ; Pennekamp, Petra ; Dougherty, Gerard W. ; Hjeij, Rim ; Gee, Heon Yung ; Otto, Edgar A. ; Halbritter, Jan ; Chaki, Moumita ; Diaz, Katrina A. ; Braun, Daniela A. ; Porath, Jonathan D. ; Schueler, Markus ; Baktai, György ; Griese, Matthias ; Turner, Emily H. ; Lewis, Alexandra P. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Hildebrandt, Friedhelm ; Shendure, Jay ; Omran, Heymut ; Zariwala, Maimoona A.

American journal of human genetics, 2013-10, Vol.93 (4), p.711-720 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Knowles, Michael R. ; Leigh, Margaret W. ; Ostrowski, Lawrence E. ; Huang, Lu ; Carson, Johnny L. ; Hazucha, Milan J. ; Yin, Weining ; Berg, Jonathan S. ; Davis, Stephanie D. ; Dell, Sharon D. ; Ferkol, Thomas W. ; Rosenfeld, Margaret ; Sagel, Scott D. ; Milla, Carlos E. ; Olivier, Kenneth N. ; Turner, Emily H. ; Lewis, Alexandra P. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Shendure, Jay ; Zariwala, Maimoona A.

American journal of human genetics, 2013-01, Vol.92 (1), p.99-106 [Periódico revisado por pares]

United States: Elsevier Inc

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