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Refinado por: Nome da Publicação: Human Molecular Genetics remover
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11
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Godler, David E ; Inaba, Yoshimi ; Shi, Elva Z ; Skinner, Cindy ; Bui, Quang M ; Francis, David ; Amor, David J ; Hopper, John L ; Loesch, Danuta Z ; Hagerman, Randi J ; Schwartz, Charles E ; Slater, Howard R

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524 [Periódico revisado por pares]

England: Oxford University Press

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12
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

NORGETT, Elizabeth E ; HATSELL, Sarah J ; CARVAJAL-HUERTA, Luis ; CABEZAS, Juan-Carlos Ruiz ; COMMON, John ; PURKIS, Patricia E ; WHITTOCK, Neil ; LEIGH, Irene M ; STEVENS, Howard P ; KELSELL, David P

Human molecular genetics, 2000-11, Vol.9 (18), p.2761-2766 [Periódico revisado por pares]

Oxford: Oxford University Press

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13
Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease
Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease
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Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease

Pang, Terence Y.C. ; Du, Xin ; Zajac, Michelle S. ; Howard, Monique L. ; Hannan, Anthony J.

Human molecular genetics, 2009-02, Vol.18 (4), p.753-766 [Periódico revisado por pares]

Oxford: Oxford University Press

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14
ABCA4 disease progression and a proposed strategy for gene therapy
ABCA4 disease progression and a proposed strategy for gene therapy
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ABCA4 disease progression and a proposed strategy for gene therapy

Cideciyan, Artur V. ; Swider, Malgorzata ; Aleman, Tomas S. ; Tsybovsky, Yaroslav ; Schwartz, Sharon B. ; Windsor, Elizabeth A.M. ; Roman, Alejandro J. ; Sumaroka, Alexander ; Steinberg, Janet D. ; Jacobson, Samuel G. ; Stone, Edwin M. ; Palczewski, Krzysztof

Human molecular genetics, 2009-03, Vol.18 (5), p.931-941 [Periódico revisado por pares]

Oxford: Oxford University Press

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15
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
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Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells

Block, Gregory J ; Narayanan, Divya ; Amell, Amanda M ; Petek, Lisa M ; Davidson, Kathryn C ; Bird, Thomas D ; Tawil, Rabi ; Moon, Randall T ; Miller, Daniel G

Human molecular genetics, 2013-12, Vol.22 (23), p.4661-4672 [Periódico revisado por pares]

England: Oxford University Press

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16
Huntingtin facilitates polycomb repressive complex 2
Huntingtin facilitates polycomb repressive complex 2
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Huntingtin facilitates polycomb repressive complex 2

Seong, Ihn Sik ; Woda, Juliana M. ; Song, Ji-Joon ; Lloret, Alejandro ; Abeyrathne, Priyanka D. ; Woo, Caroline J. ; Gregory, Gillian ; Lee, Jong-Min ; Wheeler, Vanessa C. ; Walz, Thomas ; Kingston, Robert E. ; Gusella, James F. ; Conlon, Ronald A. ; MacDonald, Marcy E.

Human molecular genetics, 2010-02, Vol.19 (4), p.573-583 [Periódico revisado por pares]

Oxford: Oxford University Press

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17
Epigenome-wide association in adipose tissue from the METSIM cohort
Epigenome-wide association in adipose tissue from the METSIM cohort
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Epigenome-wide association in adipose tissue from the METSIM cohort

Orozco, Luz D ; Farrell, Colin ; Hale, Christopher ; Rubbi, Liudmilla ; Rinaldi, Arturo ; Civelek, Mete ; Pan, Calvin ; Lam, Larry ; Montoya, Dennis ; Edillor, Chantle ; Seldin, Marcus ; Boehnke, Michael ; Mohlke, Karen L ; Jacobsen, Steve ; Kuusisto, Johanna ; Laakso, Markku ; Lusis, Aldons J ; Pellegrini, Matteo

Human molecular genetics, 2018-05, Vol.27 (10), p.1830-1846 [Periódico revisado por pares]

England: Oxford University Press

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18
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations
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Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations

Kim-Howard, Xana ; Sun, Celi ; Molineros, Julio E ; Maiti, Amit K ; Chandru, Hema ; Adler, Adam ; Wiley, Graham B ; Kaufman, Kenneth M ; Kottyan, Leah ; Guthridge, Joel M ; Rasmussen, Astrid ; Kelly, Jennifer ; Sánchez, Elena ; Raj, Prithvi ; Li, Quan-Zhen ; Bang, So-Young ; Lee, Hye-Soon ; Kim, Tae-Hwan ; Kang, Young Mo ; Suh, Chang-Hee ; Chung, Won Tae ; Park, Yong-Beom ; Choe, Jung-Yoon ; Shim, Seung Cheol ; Lee, Shin-Seok ; Han, Bok-Ghee ; Olsen, Nancy J ; Karp, David R ; Moser, Kathy ; Pons-Estel, Bernardo A ; Wakeland, Edward K ; James, Judith A ; Harley, John B ; Bae, Sang-Cheol ; Gaffney, Patrick M ; Alarcón-Riquelme, Marta ; Looger, Loren L ; Nath, Swapan K

Human molecular genetics, 2014-03, Vol.23 (6), p.1656-1668 [Periódico revisado por pares]

England: Oxford University Press

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19
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Marsh, Debbie J. ; Kum, Jennifer B. ; Lunetta, Kathryn L. ; Bennett, Michael J. ; Gorlin, Robert J. ; Ahmed, S. Faisal ; Bodurtha, Joann ; Crowe, Carol ; Curtis, Mary A. ; Dasouki, Majed ; Dunn, Teresa ; Feit, Howard ; Geraghty, Michael T. ; Graham, John M. ; Hodgson, Shirley V. ; Hunter, Alasdair ; Korf, Bruce R. ; Manchester, David ; Miesfeldt, Susan ; Murday, Victoria A. ; Nathanson, Katherine L. ; Parisi, Melissa ; Pober, Barbara ; Romano, Corrado ; Tolmie, John L. ; Trembath, Richard ; Winter, Robin M. ; Zackai, Elaine H. ; Zori, Roberto T. ; Weng, Liang-Ping ; Dahia, Patricia L. M. ; Eng, Charis

Human molecular genetics, 1999-08, Vol.8 (8), p.1461-1472 [Periódico revisado por pares]

Oxford: Oxford University Press

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20
Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS
Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS
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Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS

Baron, Desiree M ; Matheny, Tyler ; Lin, Yen-Chen ; Leszyk, John D ; Kenna, Kevin ; Gall, Katherine V ; Santos, David P ; Tischbein, Maeve ; Funes, Salome ; Hayward, Lawrence J ; Kiskinis, Evangelos ; Landers, John E ; Parker, Roy ; Shaffer, Scott A ; Bosco, Daryl A

Human molecular genetics, 2019-07, Vol.28 (13), p.2143-2160 [Periódico revisado por pares]

England: Oxford University Press

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