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CSI-OMIM - Clinical Synopsis Search in OMIM
Cohen, Raphael, Gefen, Avitan, Elhadad, Michael, Birk, Ohad S
Published in BMC bioinformatics (01.03.2011)
Published in BMC bioinformatics (01.03.2011)
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Journal Article
OMIM
Published in Oxford Dictionary of Biochemistry and Molecular Biology
(01.01.2006)
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Reference
Database construction and comparative genomics analysis of genes involved in nutritional metabolic diseases in fish
Zhang, Yuru, Zhang, Junmei, Fan, Haiying, Lu, Ronghua, Nie, Guoxing
Published in Comparative biochemistry and physiology. Part D, Genomics & proteomics (01.06.2024)
Published in Comparative biochemistry and physiology. Part D, Genomics & proteomics (01.06.2024)
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Journal Article
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
Achatz, Maria Isabel Waddington, Olivier, Magali, Calvez, Florence Le, Martel-Planche, Ghyslaine, Lopes, Ademar, Rossi, Benedito Mauro, Ashton-Prolla, Patricia, Giugliani, Roberto, Palmero, Edenir Inez, Vargas, Fernando Regla, Rocha, José Claudio Casali Da, Vettore, Andre Luiz, Hainaut, Pierre
Published in Cancer letters (08.01.2007)
Published in Cancer letters (08.01.2007)
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Journal Article
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
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Journal Article
The status of online Mendelian inheritance in man (OMIM) medio 1994
Pearson, Peter, Francomano, Clair, Foster, Patricia, Bocchini, Carol, Li, Peter, McKusick, Victor
Published in Nucleic acids research (01.09.1994)
Published in Nucleic acids research (01.09.1994)
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Journal Article
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon
Published in Nature communications (14.01.2020)
Published in Nature communications (14.01.2020)
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Journal Article
NCBI disease corpus: A resource for disease name recognition and concept normalization
Doğan, Rezarta Islamaj, Leaman, Robert, Lu, Zhiyong
Published in Journal of biomedical informatics (01.02.2014)
Published in Journal of biomedical informatics (01.02.2014)
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Journal Article
LiDiAimc: LincRNA-disease associations through inductive matrix completion
Biswas, Ashis, Jean Gao
Published in 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) (01.11.2017)
Published in 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) (01.11.2017)
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Conference Proceeding
Gendoo: Functional profiling of gene and disease features using MeSH vocabulary
Nakazato, Takeru, Bono, Hidemasa, Matsuda, Hideo, Takagi, Toshihisa
Published in Nucleic acids research (01.07.2009)
Published in Nucleic acids research (01.07.2009)
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Journal Article
Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus
Mammarella, Sandra, Creati, Beatrice, Esposito, Diana L., Arcuri, Paola, Della Loggia, Fulvio, Capani, Fabio, Mariani-Costantini, Renato, Caramia, Felice Giacomo, Battista, Pasquale, Cama, Alessandro
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study
Ivashko-Pachima, Yanina, Hadar, Adva, Grigg, Iris, Korenková, Vlasta, Kapitansky, Oxana, Karmon, Gidon, Gershovits, Michael, Sayas, C. Laura, Kooy, R. Frank, Attems, Johannes, Gurwitz, David, Gozes, Illana
Published in Molecular psychiatry (01.05.2021)
Published in Molecular psychiatry (01.05.2021)
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Journal Article