Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report by Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot

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Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature by Hassan Shehata, Ranjit Akolekar, Amanda Ali, Mariane Silva-Edge, Shahla Haroon, Abdullatif Elfituri, Radhika Viswanatha, Haider Jan

“…Therefore, we do not recommend investigation or treatment of inherited or acquired thrombophilia in women with RM.PROSPERO registration number CRD42020223554.…”
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Family center maternity care education for pregnant women through the approachin efforts to prevent stunting: a quasi-experimental by Irne Wida Desiyanti, Lisa Ardiningtyas

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

“…Twenty-one tumours harboured mutations in inherited PCC/PGL/HNPGL genes and no HRAS, BRAF, or TP53 mutations occurred in this group. …”
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Hierarchical band gaps in complex periodic systems by Dunckley, Lucas, Davies, Bryn

“…Complex periodic structures inherit spectral properties from the constituent parts of their unit cells, chiefly their spectral band gaps. …”
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Derivation of two induced pluripotent stem cell lines from a healthy control subject by Dan Zhang, Di Huang, Leon M. Larcher, Khine Zaw, Shang-Chih Chen, Luke Jennings, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan

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Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions by Linjuan Guo, Dexi Wu, Wengen Zhu

“…Inherited cardiac arrhythmias, which may lead to sudden cardiac death, represent a significant health risk, with genetic factors playing a key role in their development. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

“…This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. …”
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Isotopic Age of the Xiong’er Group Volcanic Rocks and Its Geological Significance in Western Henan, China by Wenchao Dong, Xucheng Pang, Weixun Qu, Guangshun Hou

“…In this study, through the SHRIMP (sensitive high-resolution ion microprobe) zircon uranium-lead (U-Pb) isotope dating of the volcanic rocks of the Xiong’er Group in the Xiong’er Mountain, the research results showed that the age data were separated into two intervals, the magmatic zircon ages from 1836 to 1711 Ma and the inherited zircon ages from 2415±19 to 2193±34 Ma. The isotopic age of magmatic zircon was considered to represent the formation age of the Jidanping Formation in the Xiong’er Mountain, and the isotopic ages of the inherited zircons were consistent with the formation ages of the Taihua Group supracrustal rocks in the lower Xiong’er Group. …”
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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort by Jasmine Y. Serpen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Denise Cunningham, Elizabeth C. Murphy, Amy Turriff, Brian P. Brooks, Laryssa A. Huryn

“…As ODD can be associated with visual field defects further compromising already degenerating visual function in patients with retinal degenerations, it is important to further our knowledge of ODD in inherited eye disease. The present study aims to evaluate prevalence, demographic features, and optic disc parameters of eyes with superficial ODD in inherited eye conditions. …”
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Categorical Abstract Algebraic Logic: Meet-Combination of Logical Systems by George Voutsadakis

“…In fibring the shared connectives of the combined logics inherit properties from both component logical systems, and this leads often to inconsistencies. …”
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Complement Diagnostics: Concepts, Indications, and Practical Guidelines by Bo Nilsson, Kristina Nilsson Ekdahl

“…The basic indications for serological diagnostic complement analysis today may be divided into three major categories: (a) acquired and inherited complement deficiencies; (b) disorders with complement activation; (c) inherited and acquired C1INH deficiencies. …”
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Peutz–Jeghers syndrome – Be in need of vigilance: A case report by Vandana S. Tomey, Sudhir Tomey, Kewal Dhone, Tanmay Tapase

“…With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene. …”
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Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study by Kelly E. Ormond, Caroline Stanclift, Chloe M. Reuter, Jennefer N. Carter, Kathleen E. Murphy, Malene E. Lindholm, Matthew T. Wheeler

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Structural Controls of Uranium Mineralization in the Basement of the Athabasca Basin, Saskatchewan, Canada by Antonio Benedicto, Maher Abdelrazek, Patrick Ledru, Cameron MacKay, Dwayne Kinar

“…A number of recent works, including numerical modelling, have improved the understanding of the role of inherited shear zones on fluid flow and the development of uranium deposits at a micro- and regional-scale. …”
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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. …”
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IDENTIFICATION OF A (1B)1R SUBSTITUTION AND 1BL.1RS TRANSLOCATION IN WINTER WHEAT INTROGRESSION LINES BY CYTOGENETIC AND MOLECULAR METHODS by I. I. Motsnyy, S. V. Chebotar, L. V. Sudarchuk, A. V. Galaev, Yu. M. Sivolap

“…The Hg1 gene for glume hairiness, inherited from cv. Hostianum 237, has been detected in some introgression stocks. …”
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De la sécularisation comme dialectique de la préservation et du dépassement : rupture et résurgence chez William Hale-White (« Mark Rutherford ») by Jean-Michel Yvard

“…It addresses the question of the preservation of structural schemes that have been inherited from the original religious logic by referring to a few examples borrowed from White’s writings, showing, among other things, how he was tempted to make of science -- and even of professional involvement -- a genuine inner-worldly substitutionary vocation, of secular literature a source of moral and axiological inspiration.…”
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BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts by Asta Björk Jonsdottir, Maaike P. G. Vreeswijk, Ron Wolterbeek, Peter Devilee, Hans J. Tanke, Jorunn E. Eyfjörd, Karoly Szuhai

“…Background: Inherited mutations in the tumour suppressor gene BRCA2 greatly increase the risk of developing breast, ovarian and other types of cancers. …”
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Cultivar cotidianamente resistencias y autonomías emancipatorias será necesario para tejernos entre pueblos by Vilma Almendra, Vicente Romero, Arauco Chihuailaf

“…Vilma Almendra inherited the fighting spirit from her mother. She has a university training and she contributed to the collective appropriation of the Technologies of Information and Communication. …”
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