Results 141 to 150 of about 4,358,031 (284)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Big Thicket National Preserve Field Research Station Pamphlet

Pamphlet with information on the Field Research Station in Big Thicket National Preserve, including a map and information to reserve the stationThe Big Thicket Collection contains materials relating to the conservation of the Big Thicket area of Texas ...
Big Thicket National Preserve
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ANALYSIS OF TOTAL PRODUCTIVE MAINTENANCE (TPM) IN SA-9 CAPSULE FILLING MACHINES USING THE OVERALL EQUIPMENT EFFECTIVENESS AND SIX BIG LOSSES METHODS AT PT. XYZ [PDF]

PT XYZ is a company engaged in herbal medicines, cosmetics, household supplies, and medical equipment. The products produced by PT XYZ are supported by modern infrastructure in terms of equipment, operation, and control.
Asyari, H, Hasan, M. Iqmal Maulidist
core   +1 more source

Studi Efisiensi Mesin Bignose 9 Melalui Analisis OEE dan Six Big Losses pada Sektor Kosmetik

Blend Sains Jurnal Teknik
Penelitian ini dilakukan sebagai respons terhadap tidak tercapainya target produksi Mesin Bignose 9 di PT X. Oleh karena itu, dilakukan analisis untuk mengevaluasi tingkat efektivitas mesin menggunakan metode Overall Equipment Effectiveness (OEE), serta untuk mengidentifikasi penyebab utama inefisiensi melalui pendekatan Six Big Losses.
Muhammad Prasha Risfi Silitonga, Hasna Salwaellya, Nabila Yudisha, Hilmana Radhia Putera   +3 more
openaire   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Big Thicket National Preserve and Big Thicket Association Anniversary Flyer

Schedule of events for the 25th anniversary of Big Thicket National Preserve and 35th anniversary of the Big Thicket Association, happening concurrentlyThe Big Thicket Collection contains materials relating to the conservation of the Big Thicket area of ...
Big Thicket National Preserve, U.S. National Park Service
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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Reduksi Six Big Losses Menggunakan Pendekatan Overall Equipment Effectiveness (OEE) pada Pabrik AMDK K3PG [PDF]

, 2017
Pabrik AMDK Koperasi Karyawan Keluarga Besar Petrokimia Gresik (K3PG) merupakan salah satu industri AMDK yang bergerak di bawah naungan PT. Petrokimia Gresik.
Adiratna, Tiara
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