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Fifteen years of urea cycle disorders brain research: Looking back, looking forward
Fifteen years of urea cycle disorders brain research: Looking back, looking forward
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Fifteen years of urea cycle disorders brain research: Looking back, looking forward

Sen, Kuntal ; Whitehead, Matthew ; Castillo Pinto, Carlos ; Caldovic, Ljubica ; Gropman, Andrea

Analytical biochemistry, 2022-01, Vol.636, p.114343-114343, Article 114343 [Periódico revisado por pares]

United States: Elsevier Inc

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In Vivo Detection of Brain Krebs Cycle Intermediate by Hyperpolarized Magnetic Resonance
In Vivo Detection of Brain Krebs Cycle Intermediate by Hyperpolarized Magnetic Resonance
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In Vivo Detection of Brain Krebs Cycle Intermediate by Hyperpolarized Magnetic Resonance

Mishkovsky, Mor ; Comment, Arnaud ; Gruetter, Rolf

Journal of cerebral blood flow and metabolism, 2012-12, Vol.32 (12), p.2108-2113 [Periódico revisado por pares]

London, England: SAGE Publications

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Chai, Guoliang ; Webb, Alice ; Li, Chen ; Antaki, Danny ; Lee, Sangmoon ; Breuss, Martin W. ; Lang, Nhi ; Stanley, Valentina ; Anzenberg, Paula ; Yang, Xiaoxu ; Marshall, Trevor ; Gaffney, Patrick ; Wierenga, Klaas J. ; Chung, Brian Hon-Yin ; Tsang, Mandy Ho-Yin ; Pais, Lynn S. ; Lovgren, Alysia Kern ; VanNoy, Grace E. ; Rehm, Heidi L. ; Mirzaa, Ghayda ; Leon, Eyby ; Diaz, Jullianne ; Neumann, Alexander ; Kalverda, Arnout P. ; Manfield, Iain W. ; Parry, David A. ; Logan, Clare V. ; Johnson, Colin A. ; Bonthron, David T. ; Valleley, Elizabeth M.A. ; Issa, Mahmoud Y. ; Abdel-Ghafar, Sherif F. ; Abdel-Hamid, Mohamed S. ; Jennings, Patricia ; Zaki, Maha S. ; Sheridan, Eamonn ; Gleeson, Joseph G.

Neuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.241-256.e9 [Periódico revisado por pares]

United States: Elsevier Inc

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Ocular phenotypic consequences of a single copy deletion of the Yap1 gene ( Yap1 +/- ) in mice
Ocular phenotypic consequences of a single copy deletion of the Yap1 gene ( Yap1 +/- ) in mice
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Ocular phenotypic consequences of a single copy deletion of the Yap1 gene ( Yap1 +/- ) in mice

Kim, Soohyun ; Thomasy, Sara M ; Raghunathan, Vijay Krishna ; Teixeira, Leandro B C ; Moshiri, Ala ; FitzGerald, Paul ; Murphy, Christopher J

Molecular vision, 2019, Vol.25 (1), p.129-142 [Periódico revisado por pares]

United States: Molecular Vision

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A guide to assessing cellular senescence in vitro and in vivo
A guide to assessing cellular senescence in vitro and in vivo
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A guide to assessing cellular senescence in vitro and in vivo

González‐Gualda, Estela ; Baker, Andrew G. ; Fruk, Ljiljana ; Muñoz‐Espín, Daniel

The FEBS journal, 2021-01, Vol.288 (1), p.56-80 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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6
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy
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Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy

Gardiner, Kristin L. ; Cideciyan, Artur V. ; Swider, Malgorzata ; Dufour, Valérie L. ; Sumaroka, Alexander ; Komáromy, András M. ; Hauswirth, William W. ; Iwabe, Simone ; Jacobson, Samuel G. ; Beltran, William A. ; Aguirre, Gustavo D.

Molecular therapy, 2020-01, Vol.28 (1), p.266-278 [Periódico revisado por pares]

United States: Elsevier Inc

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MDHGI: Matrix Decomposition and Heterogeneous Graph Inference for miRNA-disease association prediction
MDHGI: Matrix Decomposition and Heterogeneous Graph Inference for miRNA-disease association prediction
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MDHGI: Matrix Decomposition and Heterogeneous Graph Inference for miRNA-disease association prediction

Chen, Xing ; Yin, Jun ; Qu, Jia ; Huang, Li Wang, Edwin

PLoS computational biology, 2018-08, Vol.14 (8), p.e1006418-e1006418 [Periódico revisado por pares]

United States: Public Library of Science

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8
Global deletion of Optineurin results in altered type I IFN signaling and abnormal bone remodeling in a model of Paget's disease
Global deletion of Optineurin results in altered type I IFN signaling and abnormal bone remodeling in a model of Paget's disease
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Global deletion of Optineurin results in altered type I IFN signaling and abnormal bone remodeling in a model of Paget's disease

Wong, Sing-Wai ; Huang, Bo-Wen ; Hu, Xiangxiang ; Ho Kim, Eui ; Kolb, Joseph P ; Padilla, Ricardo J ; Xue, Peng ; Wang, Lufei ; Oguin, 3rd, Thomas H ; Miguez, Patricia A ; Tseng, Henry C ; Ko, Ching-Chang ; Martinez, Jennifer

Cell death and differentiation, 2020-01, Vol.27 (1), p.71-84 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Dynamics of uterine and ovarian arteries flow velocity waveforms and their relation to follicular and luteal growth and blood flow vascularization during the estrous cycle in Friesian cows
Dynamics of uterine and ovarian arteries flow velocity waveforms and their relation to follicular and luteal growth and blood flow vascularization during the estrous cycle in Friesian cows
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Dynamics of uterine and ovarian arteries flow velocity waveforms and their relation to follicular and luteal growth and blood flow vascularization during the estrous cycle in Friesian cows

Abdelnaby, Elshymaa A. ; Abo El-Maaty, Amal M. ; Ragab, Refaat S.A. ; Seida, Adel A.

Theriogenology, 2018-11, Vol.121, p.112-121 [Periódico revisado por pares]

United States: Elsevier Inc

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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

Blanco-Sánchez, Bernardo ; Clément, Aurélie ; Stednitz, Sara J ; Kyle, Jennifer ; Peirce, Judy L ; McFadden, Marcie ; Wegner, Jeremy ; Phillips, Jennifer B ; Macnamara, Ellen ; Huang, Yan ; Adams, David R ; Toro, Camilo ; Gahl, William A ; Malicdan, May Christine V ; Tifft, Cynthia J ; Zink, Erika M ; Bloodsworth, Kent J ; Stratton, Kelly G ; Koeller, David M ; Metz, Thomas O ; Washbourne, Philip ; Westerfield, Monte Moens, Cecilia

PLoS genetics, 2020-06, Vol.16 (6), p.e1008841-e1008841 [Periódico revisado por pares]

United States: Public Library of Science

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