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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Humans remover
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11
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
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Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

Acuña, Mariana ; Martínez, Pablo ; Moraga, Carol ; He, Xingxuan ; Moraga, Mauricio ; Hunter, Bessie ; Nuernberg, Peter ; Gutiérrez, Rodrigo A ; González, Mauricio ; Schuchman, Edward H ; Santos, José Luis ; Miquel, Juan Francisco ; Mabe, Paulina ; Zanlungo, Silvana

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.208-213 [Periódico revisado por pares]

England: Nature Publishing Group

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12
Whole-sequence analysis indicates that the Y chromosome C2-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan
Whole-sequence analysis indicates that the Y chromosome C2-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan
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Whole-sequence analysis indicates that the Y chromosome C2-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan

Wei, Lan-Hai ; Yan, Shi ; Lu, Yan ; Wen, Shao-Qing ; Huang, Yun-Zhi ; Wang, Ling-Xiang ; Li, Shi-Lin ; Yang, Ya-Jun ; Wang, Xiao-Feng ; Zhang, Chao ; Xu, Shu-Hua ; Yao, Da-Li ; Jin, Li ; Li, Hui

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.230-237 [Periódico revisado por pares]

England: Nature Publishing Group

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13
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
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Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

Farrell, Philip ; Férec, Claude ; Macek, Milan ; Frischer, Thomas ; Renner, Sabine ; Riss, Katharina ; Barton, David ; Repetto, Teresa ; Tzetis, Maria ; Giteau, Karine ; Duno, Morten ; Rogers, Melissa ; Levy, Hara ; Sahbatou, Mourad ; Fichou, Yann ; Le Maréchal, Cédric ; Génin, Emmanuelle

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1832-1839 [Periódico revisado por pares]

England: Nature Publishing Group

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14
New insights from Thailand into the maternal genetic history of Mainland Southeast Asia
New insights from Thailand into the maternal genetic history of Mainland Southeast Asia
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New insights from Thailand into the maternal genetic history of Mainland Southeast Asia

Kutanan, Wibhu ; Kampuansai, Jatupol ; Brunelli, Andrea ; Ghirotto, Silvia ; Pittayaporn, Pittayawat ; Ruangchai, Sukhum ; Schröder, Roland ; Macholdt, Enrico ; Srikummool, Metawee ; Kangwanpong, Daoroong ; Hübner, Alexander ; Arias, Leonardo ; Stoneking, Mark

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.898-911 [Periódico revisado por pares]

England: Nature Publishing Group

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15
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Smith, Bradley N ; Newhouse, Stephen ; Shatunov, Aleksey ; Vance, Caroline ; Topp, Simon ; Johnson, Lauren ; Miller, Jack ; Lee, Younbok ; Troakes, Claire ; Scott, Kirsten M ; Jones, Ashley ; Gray, Ian ; Wright, Jamie ; Hortobágyi, Tibor ; Al-Sarraj, Safa ; Rogelj, Boris ; Powell, John ; Lupton, Michelle ; Lovestone, Simon ; Sapp, Peter C ; Weber, Markus ; Nestor, Peter J ; Schelhaas, Helenius J ; Asbroek, Anneloor Alm Ten ; Silani, Vincenzo ; Gellera, Cinzia ; Taroni, Franco ; Ticozzi, Nicola ; Van den Berg, Leonard ; Veldink, Jan ; Van Damme, Phillip ; Robberecht, Wim ; Shaw, Pamela J ; Kirby, Janine ; Pall, Hardev ; Morrison, Karen E ; Morris, Alex ; de Belleroche, Jacqueline ; Vianney de Jong, J M B ; Baas, Frank ; Andersen, Peter M ; Landers, John ; Brown, Jr, Robert H ; Weale, Michael E ; Al-Chalabi, Ammar ; Shaw, Christopher E

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.102-108 [Periódico revisado por pares]

England: Nature Publishing Group

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16
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
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Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

Dixon, Katherine ; Shen, Yaoqing ; O'Neill, Kieran ; Mungall, Karen L ; Chan, Simon ; Bilobram, Steve ; Zhang, Wei ; Bezeau, Marjorie ; Sharma, Alshanee ; Fok, Alexandra ; Mungall, Andrew J ; Moore, Richard ; Bosdet, Ian ; Thibodeau, My Linh ; Sun, Sophie ; Yip, Stephen ; Schrader, Kasmintan A ; Jones, Steven J M

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.602-606 [Periódico revisado por pares]

England: Nature Publishing Group

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17
Interleukin-37 gene variants segregated anciently coexist during hominid evolution
Interleukin-37 gene variants segregated anciently coexist during hominid evolution
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Interleukin-37 gene variants segregated anciently coexist during hominid evolution

Kang, Bin ; Cheng, Shimeng ; Peng, Jinbiao ; Yan, Jingjing ; Zhang, Shuye

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1392-1398 [Periódico revisado por pares]

England: Nature Publishing Group

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18
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Larsen, Mirjam ; Rost, Simone ; El Hajj, Nady ; Ferbert, Andreas ; Deschauer, Marcus ; Walter, Maggie C ; Schoser, Benedikt ; Tacik, Pawel ; Kress, Wolfram ; Müller, Clemens R

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.808-816 [Periódico revisado por pares]

England: Nature Publishing Group

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19
The USH2A c.2299delG mutation: dating its common origin in a Southern European population
The USH2A c.2299delG mutation: dating its common origin in a Southern European population
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population

ALLER, Elena ; LARRIEU, Lise ; MILLAN, José M ; JAIJO, Teresa ; BAUX, David ; ESPINOS, Carmen ; GONZALEZ-CANDELAS, Fernando ; NAJERA, Carmen ; PALAU, Francesc ; CLAUSTRES, Mireille ; ROUX, Anne-Françoise

European journal of human genetics : EJHG, 2010-07, Vol.18 (7), p.788-793 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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20
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

Kerr, Shona M ; Cowan, Emma ; Klaric, Lucija ; Bell, Christine ; O'Sullivan, Dawn ; Buchanan, David ; Grzymski, Joseph J ; van Hout, Cristopher V ; Tzoneva, Gannie ; Shuldiner, Alan R ; Wilson, James F ; Miedzybrodzka, Zosia

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.588-595 [Periódico revisado por pares]

England: Nature Publishing Group

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