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1Academic Journal
Authors: Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan
Source: Genome Medicine, Vol 17, Iss 1, Pp 1-11 (2025)
Subject Terms: Congenital hyperinsulinism, Non-coding, Hexokinase 1, Monogenic disease, Variable penetrance, Medicine, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2Academic Journal
Authors: Yuefang Liu, Yuan Peng, Zhe Liang, Qiong Pan
Source: Scientific Reports, Vol 15, Iss 1, Pp 1-10 (2025)
Subject Terms: Copy number variations, Likely pathogenicity, Low-penetrance pathogenicity, Variation of uncertain significance, Parent-of-origin test, Medicine, Science
File Description: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3Academic Journal
Authors: Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T
Source: The Application of Clinical Genetics, Vol Volume 18, Pp 9-27 (2025)
Subject Terms: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency, Medicine (General), R5-920, Genetics, QH426-470
File Description: electronic resource
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4Academic Journal
Authors: Rocio Del Pino, Maria Ángeles Acera, Amaia Ortiz de Echevarrría, Beatriz Tijero, Marta Ruiz-Lopez, Johanne Somme, Javier Ruiz-Martínez, Andrea Gabilondo, Ioana M. Croitoru, Lara Pardina, Naia Ayo-Mentxakatorre, Ane Murueta-Goyena, Iñigo Gabilondo, Rosario Sanchez-Pernaute, Tamara Fernández-Valle, Juan Carlos Gómez Esteban
Source: Scientific Reports, Vol 15, Iss 1, Pp 1-13 (2025)
Subject Terms: Huntington disease, Cognition, Pre-manifest, Reduced penetrance, Visual cognition, Medicine, Science
File Description: electronic resource
Relation: https://doaj.org/toc/2045-2322
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5Academic Journal
Source: Frontiers in Aging Neuroscience, Vol 17 (2025)
Subject Terms: genetically determined Alzheimer’s disease, autosomal dominant Alzheimer’s disease (ADAD), down syndrome-associated Alzheimer’s disease (DS-AD), apolipoprotein E epsilon 4 (APOE4) homozygosity, sex differences in Alzheimer’s disease, disease penetrance in Alzheimer’s disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
File Description: electronic resource
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6eBook
Contributors: Roumeliotis, Stefanos, Minervini, Giuseppe
Subject Terms: kidney fibrosis, chronic kidney disease, TGFβR-1, flavonoids, pharmacokinetics, molecular docking, molecular dynamics simulations, retrospective cohort study, kidney disease, end-stage kidney disease, vitamin D, tuberculosis, type 2 diabetes mellitus, genetic susceptibility, molecular chaperons, heat shock factor 1 (HSF1), single nucleotide polymorphism, gene expression, protein folding, unfolded protein response, body mass index, obesity, sex dimorphism, NF-κB signaling, signaling dynamics, cell-fate decision, encoding and decoding, cellular information, human diseases, prolyl hydroxylase domain-containing protein, PHD protein, Phd1 gene, osteoblast, chondrocyte, knockout mice, phenotype, hypoxia-inducible factor, endochondral bone formation, MRI, prefrontal areas, putamen, gray matter volume, specific phobia, cognition, rice intake, adults, Qatar Biobank study, Neoplasia, exercise, sensitivity, chemotherapy, measurement of results reported by the patient, biomechanics, osteoarthritis, cartilage, musculoskeletal simulation, probabilistic modelling, experimental autoimmune encephalomyelitis, colitis, growth factors, nematode adaptation, angiogenesis, knee joint, biomarkers, extracellular vesicles, sepsis, coagulation, disseminated intravascular coagulation, sepsis-induced coagulopathy, laboratory evaluation, guidelines, cell competition, cellular Potts model, invasion, travelling wave, neutrophil extracellular traps, peripheral blood, infection, digital white blood cell differential, genetic disease, prevalence, penetrance, accurate diagnosis, disease iceberg effect, cumulative lifetime risk, familial aggregation, ozone, ozone therapy, oxidative stress, antioxidants defense, inflammation, dupilumab, biologic, dermatitis, lichen amyloidosis, primary cutaneous amyloidosis, primary localized cutaneous amyloidosis, IgG4-related disease, IgG4-related skin disease, immunoglobulin G4-related disease, immunoglobulin G4-related skin disease, WNT16, chondrocytes, mice, chondrogenesis, cell culture, subarachnoid hemorrhage, bone-marrow mesenchymal stem cells, cognitive impairment, high-mobility group box 1, central centrifugal cicatricial alopecia, scarring alopecia, pediatric, scarring hair loss, skin of colour, public health, ambulatory blood pressure, antihypertensive therapy, peritoneal dialysis, sex differences, geranylgeraniol, GGOH, bisphosphonates, medication-related osteonecrosis of the jaw, MRONJ, mevalonate pathway, platelets, PEVs, hemostasis, wound healing, carcinogenesis, therapy, imidacloprid, apoptosis, telencephalon, zebrafish, serous endometrial intraepithelial carcinoma, SEIC, MUSC, adjuvant therapy, relapse, BK-polyomavirus, decoy cell, polyoma nephropathy, large T antigen, VP1, complications, congenital heart disease, ECMO, extracorporeal life support, mortality, risk factors, single ventricle, BOLD signal variability, pediatrics, biomarker, fMRI, neurodevelopment, grip strength, young children, active play, growth and development, platelet-rich plasma, rhein, knee osteoarthritis, Crohn’s disease, intestinal ultrasonography, contrast-enhanced ultrasound, MR enterography, depressive disorders, cognitive function, physical function, dementia, older people, copepods, lipidomics, climate change, oceanic food chain, sentinel species, patient blood management, red blood cell, transfusion, hemoglobin, retrospective study, social isolation, space radiation, blood–brain barrier, lateral ventricle, post-stroke depression, behavioral tests, social activity, motor function, antidepressants, murine models of depression, Theatre studies, Music
File Description: application/octet-stream
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7Academic Journal
Authors: Thorpe, Holly J. 1, Pedersen, Brent S. 1, Dietze, Miranda 2, Link, Nichole 2, Quinlan, Aaron R. 1, Bonkowsky, Joshua L. 3, 4, Thomas, Ashley 5, Chow, Clement Y. 1, ∗
Source: In The American Journal of Human Genetics 6 March 2025 112(3):572-582
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8Academic Journal
Authors: Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice 1, 2, Allen, Sophie 1, Durkie, Miranda 3, Burghel, George J. 4, Robinson, Rachel 5, Callaway, Alison 6, Field, Joanne 7, Frugtniet, Bethan 2, Palmer-Smith, Sheila 8, Grant, Jonathan 9, Pagan, Judith 10, McDevitt, Trudi 11, Rowlands, Charlie F. 1, McVeigh, Terri 12, Hanson, Helen 1, 13, 14, Turnbull, Clare 1, 12, ∗
Source: In Genetics in Medicine February 2025 27(2)
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9Academic Journal
Authors: Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Subject Terms: Leber hereditary optic neuropathy, Mitochondrial DNA, Pathologic mutation, Large pedigree, Incomplete penetrance, Medicine
File Description: electronic resource
Relation: https://doaj.org/toc/1750-1172
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10Academic Journal
Source: Genome Medicine, Vol 16, Iss 1, Pp 1-10 (2024)
Subject Terms: Constraint, Penetrance, Variant interpretation, Genomic medicine, Developmental disorders, Medicine, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1756-994X
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11Academic Journal
Authors: Jia-Jia Lei, Shuang Li, Bai-Xue Dong, Jing Yang, Yi Ren
Source: Frontiers in Genetics, Vol 15 (2024)
Subject Terms: acute intermittent porphyria, hydroxymethylbilane synthase, gene mutation, penetrance, heterogeneity, oligogenic inheritance, Genetics, QH426-470
File Description: electronic resource
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12Academic Journal
Authors: Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang
Source: Frontiers in Genetics, Vol 15 (2024)
Subject Terms: kcnh2, Long QT syndrome, gender selective, turner syndrome, incomplete penetrance, Genetics, QH426-470
File Description: electronic resource
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13Academic Journal
Authors: Y. Henry Sun, Yueh-Lin Wu, Ben-Yang Liao
Source: Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-13 (2023)
Subject Terms: Phenotypic heterogeneity, Penetrance, Expressivity, Pleiotropy, Stochasticity, Threshold, Medicine
File Description: electronic resource
Relation: https://doaj.org/toc/1423-0127
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14Academic Journal
Authors: Ioan Hutu, Bianca Cornelia Lungu, Ioana Irina Spataru, Iuliu Torda, Tiberiu Iancu, Paul Andrew Barrow, Calin Mircu
Source: Animals, Vol 14, Iss 15, p 2266 (2024)
Subject Terms: Staphylococcus aureus, mastitis, antimicrobial resistance, penetrance, dairy farms, Veterinary medicine, SF600-1100, Zoology, QL1-991
File Description: electronic resource
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15Academic Journal
Authors: Weang-Kee Ho, Nur Tiara Hassan, Sook-Yee Yoon, Xin Yang, Joanna M.C. Lim, Nur Diana Binte Ishak, Peh Joo Ho, Eldarina A. Wijaya, Patsy Pei-Sze Ng, Craig Luccarini, Jamie Allen, Mei-Chee Tai, Jianbang Chiang, Zewen Zhang, Mee-Hoong See, Meow-Keong Thong, Yin-Ling Woo, Alison M. Dunning, Mikael Hartman, Cheng-Har Yip, Nur Aishah Mohd Taib, Douglas F. Easton, Jingmei Li, Joanne Ngeow, Antonis C. Antoniou, Soo-Hwang Teo
Source: The Lancet Regional Health. Western Pacific, Vol 44, Iss , Pp 101017- (2024)
Subject Terms: Penetrance, Breast cancer risk, Ovarian cancer risk, BRCA1, BRCA2, Public aspects of medicine, RA1-1270
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2666606524000117; https://doaj.org/toc/2666-6065
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16Academic Journal
Authors: Jieni Jiang, Xiaotang Cai, Haibo Qu, Qiang Yao, Tiantian He, Mei Yang, Hui Zhou, Xuemei Zhang
Source: Frontiers in Neurology, Vol 15 (2024)
Subject Terms: facioscapulohumeral muscular dystrophy 1, optical genome mapping, sibling patient, low-level mosaicism, germline mosaicism, disease penetrance, Neurology. Diseases of the nervous system, RC346-429
File Description: electronic resource
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17Academic Journal
Authors: Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart
Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101846- (2024)
Subject Terms: DICER1, DICER1 syndrome, Health care population, Penetrance, Prevalence, Genetics, QH426-470, Medicine
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009920; https://doaj.org/toc/2949-7744
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18Academic Journal
Source: International Journal of Ophthalmology, Vol 16, Iss 2, Pp 172-177 (2023)
Subject Terms: ultraviolet light, penetrance, contact lens, cornea, lens, Ophthalmology, RE1-994
File Description: electronic resource
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19Academic Journal
Source: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)
Subject Terms: Mitochondrial, Variable penetrance, Male predominance, Blindness, Medicine
File Description: electronic resource
Relation: https://doaj.org/toc/1752-1947
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20Academic Journal
Authors: Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S. Frommelt, Eva König, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M. Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P. Pramstaller, Alessandra Rossini
Source: Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1759-1773 (2023)
Subject Terms: Arrhythmogenic cardiomyopathy, Incomplete penetrance, Human induced pluripotent stem cell derived cardiomyocytes, Biotechnology, TP248.13-248.65
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2001037023000764; https://doaj.org/toc/2001-0370