Characterization of <i>Streptococcus pyogenes</i> Strains from Tonsillopharyngitis and Scarlet Fever Resurgence, 2023—FIRST Detection of M1_UK in Bulgaria by Emma Keuleyan, Theodor Todorov, Deyan Donchev, Ani Kevorkyan, Radoslava Vazharova, Alexander Kukov, Georgi Todorov, Boriana Georgieva, Iskra Altankova, Yordanka Uzunova

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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for solved cases. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

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Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

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Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases by Jiaxin Wu, Rui Jiang

“…The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. …”
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression by Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

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Surgical treatment of uterine inflammatory myofibroblastic tumor with local invasion: A case report by Dan Mu, Furong Tang, Yali Chen, Hualian Chen

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Integrating rapamycin with novel PI3K/Akt/mTOR inhibitor microRNAs on NOTCH1-driven T-cell acute lymphoblastic leukemia (T-ALL) by Fateme Arjmand, Samaneh Shojaei, Mitra Khalili, Hossein Dinmohammadi, Behzad Poopak, Samira Mohammadi-Yeganeh, Yousef Mortazavi

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Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patie... by Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti

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CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions by V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso

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Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

“…Our case further supports the recent American College of Medical Genetics and Genomics (ACMG) recommendation of WES as a first or second-tier test for patients with developmental delay, particularly in a population where the chances of dual diagnosis is high.…”
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The role of high-density lipoproteins in sepsis by Liam R. Brunham

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Epigenetic Mechanisms in the Transcriptional Regulation of Circadian Rhythm in Mammals by Wei Mao, Xingnan Ge, Qianping Chen, Jia-Da Li

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Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy by Hilde Fiskvik, Anne F. Jacobsen, Nina Iversen, Carola E. Henriksson, Eva-Marie Jacobsen

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Multitasking muscle: engineering iPSC-derived myogenic progenitors to do more by Mark Stephen Hamer, Fabio M. V. Rossi

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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. …”
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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

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The Role of the PGC1α Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy by Samir S. Deeb, John D. Brunzell

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