Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

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Immune monitoring of trabectedin therapy in refractory soft tissue sarcoma patients - the IMMUNYON study by Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Luana Madalena Sousa, Luana Madalena Sousa, Luana Madalena Sousa, Patrícia Couceiro, Patrícia Couceiro, Patrícia Couceiro, Patrícia Couceiro, António Martinho, Joana Rodrigues, Ruben Fonseca, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Paulo Freitas-Tavares, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova

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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

“…Herein, we report a novel 11-bp deletion in exon 11 leading to a frameshift in the C-terminal region of the ALAS2 gene with a non-functional longer polypeptide of 614 amino acids leading to a loss-of-function mutation manifested as an X-linked sideroblastic anemia phenotype. …”
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Preferensi dan Tingkat Serangan Keong Mas (Pomaceae canaliculata Lamarck) terhadap Beberapa Varietas Padi (Oryza sativa Linnaeus) by Rusdi Rusli, Suardi Gani, Rudy Thomson Hutasoit

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Pengembangan Sistem Informasi Layanan Dokumen Alumni Politeknik Statistika STIS by Ni Ketut Ananta Kusuma Dewi, Nori Wilantika

“…All features in this system are valid based on the Black-box Testing results and get a score of 73,25 which means the system are accepted by users and the category is good.   …”
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Effect of educational content creators on student motivation and learning outcomes in the pandemic COVID-19 by Afni Zahrotulmuna Sya’ro, Eka Puspa Dewi

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Pioneering the Security of EHRs Using an Immersive Blockchain Conceptual Framework by Rihab Benaich, Youssef Gahi, Saida El Mendili

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Abstinence Self-Efficacy and Resilience in Persons with Substance Use Disorder by L. Iris Devi, Arunjyoti Baruah, Nurnahar Ahmed

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Perancangan Pengalaman Pengguna Portal Job Fair Sarjana Sakti dengan Pendekatan Human-Centered Design by Annisah Amalia, Herman Tolle, Ratih Kartika Dewi

“…This application was designed using the Human-Centered Design approach because it has an iterative design strategy to get the expected results. At the solution design evaluation stage, usability and user experience tests were carried out on 10 participants. …”
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Aktivitas Air Rebusan Daun dari Beberapa Tumbuhan dalam Menekan Pertumbuhan Sclerotium rolfsii Sacc. Penyebab Busuk Batang pada Tanaman Kacang Tanah secara In Vitro by Martinius Martinius, Suardi Gani, Juita Wilna Ningsih

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Analisis Tingkat Kepuasan Pengguna Aplikasi Mytelkomsel Menggunakan Evaluasi Heuristik dan Metode Pieces (Studi Kasus : Mahasiswa Kampus Karawaci Universitas Gunadarma) by Fajar Nugraha, Dewi Agushinta Rahayu, Irwan Bastian

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Modern Mutfak (Nouvelle Cuisine) Anlayışının Gabriel Tarde’nin Sosyal Taklit Teorisi ve İletişim Bağlamında Analizi by Uğur Kaçan

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CD38 deficiency leads to a defective short-lived transcriptomic response to chronic graft-versus-host disease induction, involving purinergic signaling-related genes and distinct transcriptomic signatures associated with lupus by Mercedes Zubiaur, Laura C. Terrón-Camero, Fernando Gordillo-González, Eduardo Andrés-León, Alicia Barroso-del Jesús, Luz María Canet-Antequera, María M. Pérez Sánchez-Cañete, África Martínez-Blanco, Marilú Domínguez-Pantoja, María Botia-Sánchez, Sonia Pérez-Cabrera, Nerea Bello-Iglesias, Antonio Alcina, Ana-Clara Abadía-Molina, Fuencisla Matesanz, Esther Zumaquero, Ramón Merino, Jaime Sancho

“…These analyses revealed a sustained upregulation of a transcriptional profile of purinergic receptors and ectonucleotidases in cGVHD WT PECs, which displayed a coordinated expression with several type I interferon-stimulated genes (ISGs) and with key molecules involved in the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling pathway, two hallmarks in the lupus pathology. …”
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Association between a publicly funded universal drug program and antipsychotic and antidepressant medication dispensing to children by Sophie A. Kitchen, Tara Gomes, Mina Tadrous, Kathleen Pajer, William Gardner, Yona Lunsky, Melanie Penner, David Juurlink, Muhammad Mamdani, Tony Antoniou

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Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients by A. S. Tsukanov, N. I. Pospehova, V. P. Shubin, I. Yu. Sachkov, S. N. Zhdankina, A. A. Ponomarenko, E. G. Rybakov, S. I. Achkasov, V. N. Kashnikov, S. A. Frolov, Yu. A. Shelygin

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De compras para la salud: Las frutas by Ashley R. Kendall, Wendy J. Dahl

Subjects: “…De Compras para La Salud series…”
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Social Media Advocacy for SDG 5 in the Middle East: Insights from Egypt, Tunisia, and Jordan by Laila El Baradei, Mohamed Kadry, Ghadeer Ahmed

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Molecular genetic factors influencing outcomes of <i>Helicobacter pylori</i> infection at Khakasia republic inhabitants by Ye. S. Ageyeva, O. V. Shtygasheva, N. V. Ryazantseva, V. V. Tsukanov

Subjects: “…allelic polymorphism of genes…”
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A daily rhythm of cell proliferation in a songbird brain by Vladimira Hodova, Valentina Maresova, Rebecca Radic, Lubica Kubikova

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Perancangan Sistem Automatic Indikator Rumah Sakit menggunakan Metode Agile guna Menunjang Rekam Medis Elektronik by Hafifah Ismayati, Yuda Syahidin, Yuyun Yunengsih

Subjects: “…Perancangan, Automatic Indikator Rumah Sakit, Metode agille, Rekam Medis Elektronik…”
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