AN ORPHAN PHENOTYPE OF CARDIOGENITAL LAMINOPATHY — MALOUF SYNDROME by T. G. Vaykhanskaya, L. N. Sivitskaya, N. G. Danilenko, T. V. Kurushko, O. G. Nizhnikova, O. G. Davydenko

“…In clinical practice, there are cardial phenotypes common, i. e. dilation cardiomyopathy (DCMP), skeletal-muscular dystrophies (Emery-Dreifuss dystrophy, inherited and limbleveled) and more rare forms — lipodystrophies, progeroid phenotypes (acromandibular dysplasia, Hutchinson-Gilford progeria, atypical Werner syndrome), Malouf syndrome. …”
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Towards an Ontology-Based Phenotypic Query Model by Christoph Beger, Franz Matthies, Ralph Schäfermeier, Toralf Kirsten, Heinrich Herre, Alexandr Uciteli

“…In this work, the Core Ontology of Phenotypes is used as a general model for phenotypic knowledge. …”
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Wheezing in infants and preschoolers: phenotypes and treatment options by Jung Yeon Shim

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THE PHENOTYPE AND FUNCTION OF MONOCYTES IN PATIENTS WITH PULMONARY TUBERCULOSIS by L. V. Sakhno, M. A. Tihonova, V. S. Kozhevnikov, V. V. Senjukov, N. V. Pronkina, S. D. Nikonov, O. A. Zhdanov, A. A. Ostanin, E. R. Chernykh

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The Utility of Nasal Challenges to Phenotype Asthma Patients by Guillermo Bentabol-Ramos, Rocio Saenz de Santa Maria-Garcia, Monica Vidal-Diaz, Ibon Eguiluz-Gracia, Almudena Testera-Montes

Subjects: “…asthma phenotypes…”
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Various Phenotypic Expressions of the Bicuspid Aortic Valve by Tim Paterick

“…The phenotypic expressions of the bicuspid aortic valve (BAV) are unpredictable and difficult to compartmentalize. …”
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Considering a neuropsychiatric obsessive–compulsive phenotype by M. Pinho, D. O. Martins, P. S. Martins, L. Gomes, S. Carvalho

“…Conclusions Current evidence shows OCD and movement disorders may share dysfunctional brain circuits, resulting in a neuropsychiatric obsessive–compulsive phenotype, which may differ in terms of clinical characteristics and management. …”
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Rapid local adaptation linked with phenotypic plasticity by Syuan‐Jyun Sun, Andrew M. Catherall, Sonia Pascoal, Benjamin J. M. Jarrett, Sara E. Miller, Michael J. Sheehan, Rebecca M. Kilner

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Assays for phenotypic and functional characterization of cryopreserved platelets by Denese C Marks, Lacey Johnson

“…Cryopreservation, however, has some disadvantages, as platelets can be damaged during the freezing and thawing process. Consequently the phenotype of cryopreserved platelets is very different to that of freshly collected, liquid stored platelets. …”
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The Atrial Phenotype of the Inherited Primary Arrhythmia Syndromes by Giulio Conte, Ulrich Schotten, Angelo Auricchio

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An evaluation of GPT models for phenotype concept recognition by Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese

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Tumor growth fueled by spurious senescence phenotypes by Michalis Mastri, John M. L. Ebos

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Learning epistatic polygenic phenotypes with Boolean interactions by Merle Behr, Karl Kumbier, Aldo Cordova-Palomera, Matthew Aguirre, Omer Ronen, Chengzhong Ye, Euan Ashley, Atul J. Butte, Rima Arnaout, Ben Brown, James Priest, Bin Yu

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Phenotypic and morphometric characterization of desi duck of Odisha by REENA KAMAL, AMITAVA DEY, P C CHANDRAN, R K MOHANTA, S C GIRI, S MOHANTY, SANTOSH KUMAR GUPTA, SAMIR KUMAR BARARI

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Metabolic Oscillations and Glycolytic Phenotypes of Cancer Cells by Takashi Amemiya, Kenichi Shibata, Tomohiko Yamaguchi

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Genotype-Phenotype Correlations in PMM2-CDG by Laurien Vaes, Daisy Rymen, David Cassiman, Anna Ligezka, Nele Vanhoutvin, Dulce Quelhas, Eva Morava, Peter Witters

“…So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. …”
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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. by Robertson, S, Jenkins, Z, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Haelst, v, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A

“…Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. …”

Phenotypic and functional heterogeneity of CD4+ T cells. by Powrie, F, Mason, D

“…The monoclonal antibody MRC OX-22 divides rat CD4+ T cells into two phenotypically distinct groups. In this review, Fiona Powrie and Don Mason examine the functional properties and lineage relationships of these CD4+ T-cell subsets, and compare these findings to those made in humans and mice. © 1988.…”

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. by Woodford-Richens, K, Bevan, S, Churchman, M, Dowling, B, Jones, D, Norbury, C, Hodgson, S, Desai, D, Neale, K, Phillips, R, Young, J, Leggett, B, Dunlop, M, Rozen, P, Eng, C, Markie, D, Rodriguez-Bigas, M, Sheridan, E, Iwama, T, Eccles, D, Smith, G, Kim, J, Kim, K, Sampson, JR, Evans, G

Clustering genes by function to understand disease phenotypes by Andrews, T

“…Using pathway analysis I found significant functional associations for 329 individual phenotypes and show that 39% of these could explain the patients’ multiple co-morbid phenotypes; and multiple associated genes clustered within individual CNVs. …”