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Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review
Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review
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Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review

Xu, Hui-Hui ; Zhang, Yang ; He, Zhe-Hang ; Di, Xing-Hong ; Pan, Fei-Yan ; Shi, Wei-Wu

BMC medical genomics, 2023-05, Vol.16 (1), p.111-111, Article 111 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Solving the taxonomic identity of Hipposideros cineraceus sensu lato (Chiroptera: Hipposideridae) in the Thai-Malay Peninsula, with the description of a new species
Solving the taxonomic identity of Hipposideros cineraceus sensu lato (Chiroptera: Hipposideridae) in the Thai-Malay Peninsula, with the description of a new species
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Solving the taxonomic identity of Hipposideros cineraceus sensu lato (Chiroptera: Hipposideridae) in the Thai-Malay Peninsula, with the description of a new species

Wongwaiyut, Phutita ; Karapan, Sunate ; Saekong, Puchit ; Francis, Charles M ; Guillén-Servent, Antonio ; Senawi, Juliana ; Khan, Faisal Ali Anwarali ; Bates, Paul J J ; Jantarit, Sopark ; Soisook, Pipat

Zootaxa, 2023-05, Vol.5277 (3), p.401-442 [Periódico revisado por pares]

New Zealand: Magnolia Press

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3
Inclusion body myositis: from genetics to clinical trials
Inclusion body myositis: from genetics to clinical trials
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Inclusion body myositis: from genetics to clinical trials

Nagy, Sara ; Khan, Alaa ; Machado, Pedro M. ; Houlden, Henry

Journal of neurology, 2023-03, Vol.270 (3), p.1787-1797 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Balanced mitochondrial and cytosolic translatomes underlie the biogenesis of human respiratory complexes
Balanced mitochondrial and cytosolic translatomes underlie the biogenesis of human respiratory complexes
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Balanced mitochondrial and cytosolic translatomes underlie the biogenesis of human respiratory complexes

Soto, Iliana ; Couvillion, Mary ; Hansen, Katja G ; McShane, Erik ; Moran, J Conor ; Barrientos, Antoni ; Churchman, L Stirling

Genome Biology, 2022-08, Vol.23 (1), p.170-170, Article 170 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution
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Variant pathogenic prediction by locus variability: the importance of the current picture of evolution

Cabrera-Alarcon, José Luis ; Martinez, Jorge García ; Enríquez, José Antonio ; Sánchez-Cabo, Fátima

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.555-559 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Glucose- and Non-Glucose-Induced Mitochondrial Dysfunction in Diabetic Kidney Disease
Glucose- and Non-Glucose-Induced Mitochondrial Dysfunction in Diabetic Kidney Disease
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Glucose- and Non-Glucose-Induced Mitochondrial Dysfunction in Diabetic Kidney Disease

Ito, Marie ; Gurumani, Margaret Zvido ; Merscher, Sandra ; Fornoni, Alessia

Biomolecules (Basel, Switzerland), 2022-02, Vol.12 (3), p.351 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
An in Situ Atlas of Mitochondrial DNA in Mammalian Tissues Reveals High Content in Stem and Proliferative Compartments
An in Situ Atlas of Mitochondrial DNA in Mammalian Tissues Reveals High Content in Stem and Proliferative Compartments
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An in Situ Atlas of Mitochondrial DNA in Mammalian Tissues Reveals High Content in Stem and Proliferative Compartments

Chen, Jiayu ; Zheng, Qizhi ; Peiffer, Lauren B. ; Hicks, Jessica L. ; Haffner, Michael C. ; Rosenberg, Avi Z. ; Levi, Moshe ; Wang, Xiaoxin X. ; Ozbek, Busra ; Baena-Del Valle, Javier ; Yegnasubramanian, Srinivasan ; De Marzo, Angelo M.

The American journal of pathology, 2020-07, Vol.190 (7), p.1565-1579 [Periódico revisado por pares]

United States: Elsevier Inc

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8
The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells
The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells
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The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells

Douida, Abdennour ; Batista, Frank ; Robaszkiewicz, Agnieszka ; Boto, Pal ; Aladdin, Azzam ; Szenykiv, Mónika ; Czinege, Rita ; Virág, László ; Tar, Krisztina

Journal of cellular and molecular medicine, 2020-06, Vol.24 (12), p.6716-6730 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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9
Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier
Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier
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Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier

Piras, Ignazio S ; Bleul, Christiane ; Siniard, Ashley ; Wolfe, Amanda J ; De Both, Matthew D ; Hernandez, Alvaro G ; Huentelman, Matthew J

Genes, 2020-05, Vol.11 (6), p.609 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
The EDCMET Project: Metabolic Effects of Endocrine Disruptors
The EDCMET Project: Metabolic Effects of Endocrine Disruptors
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The EDCMET Project: Metabolic Effects of Endocrine Disruptors

Küblbeck, Jenni ; Vuorio, Taina ; Niskanen, Jonna ; Fortino, Vittorio ; Braeuning, Albert ; Abass, Khaled ; Rautio, Arja ; Hakkola, Jukka ; Honkakoski, Paavo ; Levonen, Anna-Liisa

International journal of molecular sciences, 2020-04, Vol.21 (8), p.3021 [Periódico revisado por pares]

Switzerland: MDPI AG

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