Timing of congenital cytomegalovirus diagnosis and missed opportunities by Mallory R. Baker, Xing Wang, Ann J. Melvin

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Historias de misses, historias de naciones by Pequeño , Andrea

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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…The assays of relative IVD gene mRNA expression, IVD protein expression, and enzymatic activity were used.ResultsWhole-exome sequencing identified a novel homozygous missense variant in the IVD gene (NM_002225.5) c.1006T>C (p.Cys336Arg) within a region of homozygosity of 15q11.2-q21.3. …”
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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

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Modulation of Second Messenger Signaling in the Brain Through PDE4 and PDE5 Inhibition: Therapeutic Implications for Neurological Disorders by Min Kyu Park, Hyun Wook Yang, Seo Young Woo, Dong Yeon Kim, Dae-Soon Son, Bo Young Choi, Sang Won Suh

“…This review synthesizes current evidence on the roles of PDE4 and PDE5 in neurological health and disease, focusing on their regulation of second messenger pathways and their implications for brain function. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

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A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis by Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro

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Vom Einfall zum Gedanken. Arnold Schönbergs Tonalitätsdenken und dessen Entwicklung seit der Harmonielehre by Gerhard Luchterhandt

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Common Green Bottle Fly or Sheep Blow Fly Lucilia sericata (Meigen) (Insecta: Diptera: Calliphoridae) by Matthew Anderson, Phillip E. Kaufman

“…EENY-502/IN903: Common Green Bottle Fly or Sheep Blow Fly Lucilia sericata (Meigen) (Insecta: Diptera: Calliphoridae) (ufl.edu) …”
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Motion – Laparoscopic Nissen Fundoplication Is More Cost Effective Than Oral PPI Administration: Arguments for the Motion by Lee L Swanström

“…Data from the author’s facility indicate that laparoscopic Nissen fundoplication is the most cost effective option when it is undertaken by experienced surgeons on otherwise healthy patients who have documented gastroesophageal reflux disease.…”
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Écrire, chanter, agir : les graduels et missels notés en notation aquitaine avant 1100 by Eduardo Henrik Aubert

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Common Green Bottle Fly or Sheep Blow Fly Lucilia sericata (Meigen) (Insecta: Diptera: Calliphoridae) by Matthew Anderson, Phillip E. Kaufman

“…EENY-502/IN903: Common Green Bottle Fly or Sheep Blow Fly Lucilia sericata (Meigen) (Insecta: Diptera: Calliphoridae) (ufl.edu) …”
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Studying critical parameters of superconductor via diamond quantum sensors by Kin On Ho, Wai Kuen Leung, Yiu Yung Pang, King Yau Yip, Jianyu Xie, Yi Man Liu, Aliki Sofia Rotelli, Man Yin Leung, Ho Yin Chow, Kwing To Lai, Andrej Denisenko, B Keimer, Jörg Wrachtrup, Sen Yang

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Comparative cytogenetics of anembryonic pregnancies and missed abortions in human by T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, N. N. Sukhanova, S. A. Vasilyev, I. N. Lebedev

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COVID-19: a missed opportunity for medical education by Wai Jia Tam, Dale A. Fisher

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Missed rifampicin and isoniazid resistance by commercial molecular assays by L Richards, F Ismail, J Nel, S V Omar

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Mis- or Missed Diagnosis: A Series of Four Cases by Sheela Sreedharan, Bhat Sangeetha Govinda, Iyer Satishkumar Krishnan, Kumar Kavita Krishna

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Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

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