Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH by Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li

“…In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. …”
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Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis by Khyber Shinwari, Liu Guojun, Svetlana S. Deryabina, Mikhail A. Bolkov, Irina A. Tuzankina, Valery A. Chereshnev

“…Our results indicate that seven nsSNPs, rs115982879, rs149792489, rs374941368, rs121908254, rs149531418, rs121908251, and rs372499913, are deleterious in the CCBE1 gene, four (G330E, C102S, C174R, and G107D) of which are the highly deleterious, two of them (G330E and G107D) have never been seen reported in the context of Hennekam syndrome. Twelve missense SNPs, rs199902030, rs267605221, rs37517418, rs80008675, rs116596858, rs116675104, rs121908252, rs147974432, rs147681552, rs192224843, rs139059968, and rs148498685, are found to revert into stop codons. …”
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Relationship between Ca2+ and cAMP as second messengers in ACTH-induced cortisol production in bovine adrenal fasciculata cells by Masahiko Kutsukake, Naoko Kuwabara, Yoshikazu Miyate, Kenzo Kudo, Shoko Goto, Eiichi Taira, Eiichi Tachikawa

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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

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Friedrich Nietzsche, der "Meister des Verdachts". Über die Nietzsche-Lektüren von Michel Foucault und Paul Ricoeur by Yvanka Raynova

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Arnold Jacobshagen (Hg.), Musik, die Wissen schafft. Perspektiven künstlerischer Musikforschung, Würzburg: Königshausen & Neumann 2020 by Ariane Jeßulat

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Motion – Laparoscopic Nissen Fundoplication Is More Cost-Effective than Oral PPI Administration: Arguments against the Motion by Amnon Sonnenberg

“…Two decision analyses from European investigators seemed to show that Nissen fundoplication was more cost effective than long term acid-suppression therapy, but they failed to consider the costs of surgical complications and failures. …”
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Gastric Perforation and Pancreatitis Manifesting after an Inadvertent Nissen Fundoplication in a Patient with Superior Mesenteric Artery Syndrome by Mikael Petrosyan, Joaquin J. Estrada, Stefano Giuliani, Monica Williams, Heather Rosen, Rodney J. Mason

“…We report a 54-year-old female, with SMA syndrome which manifested itself after Nissen fundoplication along with two major complications. …”
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Die Rolle der Terminologie in der Darstellung des buchkundlichen Wissens (translated from German by L. Citavičiūtė) by Krzysztof Migoń

“…Die grundlegende Frage in diesem Vortrag ist: Wie bezeichnet man in der Fachliteratur Disziplinen, die das buchkundliche Wissen sammeln, bearbeiten, untersuchen und darstellen? …”
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Tourismusgebiete müssen sich neu erfinden. Doch in welche Richtung entwickeln sich die Bergstationen in den Alpen? by Marc Langenbach, Christophe Clivaz, Hugues Francois

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Missed Capitellar Fracture Caused by Avoidance of Radiological Evaluation in Pregnancy by Barış Polat, Ramadan Özmanevra, Deniz Aydın, Enes Sarı, Mehmet Yalçınozan

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Vesicocolonic Fistula: A Sequela of Missed Blunt Abdominal Injury by Abdulwahab Akanbi Ajape, AbdulLateef Babata, Mustapha Mohammed Kura, Musa Nuhu

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Missed Registration of Disease Codes for Pediatric Anaphylaxis at the Emergency Department by Byungho Choi, Sun Hyu Kim, Hyeji Lee

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Vestibular Schwannoma Presenting as Oral Dysgeusia: An Easily Missed Diagnosis by Emma Brown, Konrad Staines

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Role of the serum levels of the inter-organs messenger fibroblast growth factor 21 (FGF21) in the diagnosis and prognosis of breast cancer patients by Stella Maris Ranuncolo, Eduardo Armanasco, Myriam Nuñez, Laura Yuan, Sujhrob Makhkamov, Mariana S. De Lorenzo

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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema by Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal

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Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family by Shahida Awais, Lubna Siddique, Nida Shafi, Sobia Humerah, Summyah Niazi, Wafa Omer

“…Genetic analysis revealed a missense mutation in RAG2 genes in female SCID patient.      …”
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Nathalie Dessens et Jean-Pierre Le Glaunec, dirs, Interculturalité: la Louisiane au carrefour des cultures by Claire Parfait

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Biography as Compilation: How to Encode Georg Nikolaus Nissen’s Biographie W. A. Mozart’s (1828) in TEI P5 by Anja Morgenstern, Agnes Amminger

“…Mozart’s (1828) by Georg Nikolaus Nissen (Nissen Online) began as part of the Digital Mozart-Edition (DME) at the Mozarteum Foundation Salzburg. …”
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Predictors of missed hospital appointments in patients with posterior compartment pelvic floor disorders in a tertiary referral centre by Tanzeela Gala, Mehak Saini, Abigail Fernandes, Carlotta Sarzo, Noman Shahzad, Carlene Igbedioh, Alexis Schizas, Linda Ferrari, Alison Hainsworth

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