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Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy
Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy
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Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy

Karner, Eva ; Keller, Hans ; Schäffl-Doweik, Lilian ; Laccone, Franco ; Stöllberger, Claudia

Obstetric medicine, 2023-11 [Periódico revisado por pares]

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2
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Beggs, Alan H ; Yu, Timothy W ; DeChene, Elizabeth T ; Towne, Meghan C ; Price, Emily N ; Luquette, Lovelace J ; Lyon, Elaine ; Majzoub, Joseph ; Neupert, Peter ; Szolovits, Peter ; Temme, Renee ; Medne, Livija ; Cassa, Christopher A ; Duzkale, Hatice ; Fairbrother, William ; Francioli, Laurent ; Funke, Birgit H ; Lage, Kasper ; Lebo, Matthew S ; Leshchiner, Ignaty ; McLaughlin, Heather M ; Murray, Michael F ; Polak, Paz P ; Raychaudhuri, Soumya ; Rehm, Heidi L ; Stitziel, Nathan O ; Vestecka, Sara ; Supper, Jochen ; Gugenmus, Claudia ; Klocke, Bernward ; Hahn, Alexander ; Schubach, Max ; Menzel, Mortiz ; Biskup, Saskia ; Freisinger, Peter ; Sheffield, Val C ; Stone, Edwin M ; Bair, Thomas ; Braun, Terry A ; Darbro, Benjamin ; Edens, Erik ; Shchelochkov, Oleg A ; Heusel, Jonathan W ; Maga, Tara ; Panzer, Karin ; Azaiez, Hela ; Booth, Kevin ; Meyer, Nic ; Tromp, Gerard ; Corsmeier, Donald ; Herman, Gail ; McBride, Kim L ; Rakowsky, Alexander T ; Maver, Aleš ; Lovrečić, Luca ; Magnusson, Måns ; Nilsson, Daniel ; Stranneheim, Henrik ; Gilissen, Christian ; Hoischen, Alexander ; van Bon, Bregje ; Zhang, Weidong ; Sager, Jason ; Zhang, Lu ; Blair, Kathryn ; Kural, Deniz ; Javed, Asif ; Sandhu, Komal S ; Veeramachaneni, Vamsi ; Isakov, Ofer ; Friedman, Eitan ; Shomron, Noam ; Glusman, Gustavo ; Roach, Jared C ; Caballero, Juan ; Mauldin, Denise ; Rowen, Lee ; Richards, Daniel R ; San Lucas, F Anthony ; Gonzalez-Garay, Manuel L ; Caskey, C Thomas ; Bai, Yu ; Huang, Ying ; Fang, Fang ; Zhang, Yan ; Barrera, Jorge ; Rodriguez, Maria C ; De La Vega, Francisco M ; Cargill, Michele ; Lyon, Gholson J ; Yandell, Mark ; Hou, Lin ; Yan, Xiting ; Yang, Can ; Gunel, Murat ; Alexander, Austin C ; Boycott, Kym M ; Bulman, Dennis E ; Sawyer, Sarah L ; Margulies, David M

Genome Biology, 2014-01, Vol.15 (3), p.R53-R53 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Pathogenic mechanisms in centronuclear myopathies
Pathogenic mechanisms in centronuclear myopathies
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Pathogenic mechanisms in centronuclear myopathies

Jungbluth, Heinz ; Gautel, Mathias

Frontiers in aging neuroscience, 2014-12, Vol.6, p.339-339 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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4
Genetic risk factors for dilated cardiomyopathy
Genetic risk factors for dilated cardiomyopathy
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Genetic risk factors for dilated cardiomyopathy

Vaikhanskaya, T. G. ; Sivitskaya, L. N. ; Levdansky, O. D. ; Kurushko, T. V. ; Danilenko, N. G.

Rossiĭskiĭ kardiologicheskiĭ zhurnal, 2021-11, Vol.26 (10), p.4628 [Periódico revisado por pares]

FIRMA «SILICEA» LLC

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5
Social, Genetics and Histopathological Factors Related to Titin ( TTN ) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis
Social, Genetics and Histopathological Factors Related to Titin ( TTN ) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis
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Social, Genetics and Histopathological Factors Related to Titin ( TTN ) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis

Gomes, Fabiana de Campos ; Figueiredo, Eric Renato Lima ; Araújo, Ediane Nunes De ; Andrade, Edila Monteiro De ; Carneiro, Carlos Diego Lisbôa ; Almeida, Gabriel Mácola De ; Dias, Helana Augusta Andrade Leal ; Teixeira, Lucélia Inoue Bispo ; Almeida, Manuela Trindade ; Farias, Mariusa Fernandes De ; Linhares, Natália Albim ; Fonseca, Natasha Lima Da ; Pereira, Yago Dos Santos ; Melo-Neto, João Simão de

Genes, 2023-05, Vol.14 (5), p.1092 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
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Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Itoh-Satoh, Manatsu ; Hayashi, Takeharu ; Nishi, Hirofumi ; Koga, Yoshinori ; Arimura, Takuro ; Koyanagi, Takeshi ; Takahashi, Megumi ; Hohda, Shigeru ; Ueda, Kazuo ; Nouchi, Tatsuhito ; Hiroe, Michiaki ; Marumo, Fumiaki ; Imaizumi, Tsutomu ; Yasunami, Michio ; Kimura, Akinori

Biochemical and biophysical research communications, 2002-02, Vol.291 (2), p.385-393 [Periódico revisado por pares]

United States: Elsevier Inc

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7
A 3-Day Functional Unloading is Accompanied by an Increase in the TTN Gene Expression in the Rat Soleus Muscle without Changes in Alternative Splicing from Exon 50 to Exon 111
A 3-Day Functional Unloading is Accompanied by an Increase in the TTN Gene Expression in the Rat Soleus Muscle without Changes in Alternative Splicing from Exon 50 to Exon 111
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A 3-Day Functional Unloading is Accompanied by an Increase in the TTN Gene Expression in the Rat Soleus Muscle without Changes in Alternative Splicing from Exon 50 to Exon 111

Ulanova, A. D. ; Gritsyna, Yu. V. ; Zhalimov, V. K. ; Bobyleva, L. G. ; Belova, S. P. ; Nemirovskaya, T. L. ; Shenkman, B. S. ; Vikhlyantsev, I. M.

Biophysics (Oxford), 2019, Vol.64 (5), p.683-689

Moscow: Pleiades Publishing

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8
Titin-cap ( TCAP) polymorphisms associated with marbling score of beef
Titin-cap ( TCAP) polymorphisms associated with marbling score of beef
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Titin-cap ( TCAP) polymorphisms associated with marbling score of beef

Cheong, H.S. ; Yoon, D. ; Kim, L.H. ; Park, B.L. ; Lee, H.W. ; Han, C.S. ; Kim, E.M. ; Cho, H. ; Chung, E.R. ; Cheong, I. ; Shin, H.D.

Meat science, 2007-10, Vol.77 (2), p.257-263 [Periódico revisado por pares]

Oxford: Elsevier Ltd

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9
Chapter 93 - The Congenital Myopathies
Chapter 93 - The Congenital Myopathies
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Chapter 93 - The Congenital Myopathies

Jungbluth, Heinz ; Sewry, Caroline ; Muntoni, Francesco

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 2015, p.1121-1129

Elsevier Inc

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10
Characterization of circular RNAs in human, mouse and rat hearts
Characterization of circular RNAs in human, mouse and rat hearts
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Characterization of circular RNAs in human, mouse and rat hearts

Werfel, Stanislas ; Nothjunge, Stephan ; Schwarzmayr, Thomas ; Strom, Tim-Matthias ; Meitinger, Thomas ; Engelhardt, Stefan

Journal of molecular and cellular cardiology, 2016-09, Vol.98, p.103-107 [Periódico revisado por pares]

England: Elsevier Ltd

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