Results 61 to 70 of about 88,437 (245)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

HEİDEGGER'DEN SARTRE'A VAROLUŞ KAVRAMININ ONTOLOJİK, FENOMENOLOJİK VE VAROLUŞÇU ANLAMI

Felsefe Dünyası, 2010
Heidegger'den Sartre'a Varoluş Kavramının Ontolojik, Fenomenolojik ve Varoluşçu ...
Talip Karakaya
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Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report

European Journal of Case Reports in Internal Medicine
Introduction: Hepatoerythropoietic porphyria (HEP) is an uncommon autosomal recessive disorder marked by deficiencies in enzymes involved in heme biosynthesis. This results in the build-up of porphyrins and their precursors.
Çağdaş Kaya, Ayli Heydari, Oğuz Kızılay, Ozan Kızılay, Gülbüz Sezgin   +4 more
doaj   +1 more source

Influence of Fat Oil Binding Capacity on Shelf‐Life and Consumer Acceptance of a Chocolate‐Based Model System

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT In chocolate‐coated products, oil migration can lead to chocolate softening and discoloration, filling hardening, and reduced consumer acceptance. This study examined three fats (soy‐, palm‐, and palm‐kernel (PK) based), crystallized under different conditions (cooling rate and high intensity ultrasound (HIU)) with differing oil binding ...
Audrey Lidgard, Farnaz Maleky, Silvana Martini   +2 more
wiley   +1 more source

Thermal Black‐Infused Polyurethane Rigid Foams: Novel Formulations Toward Higher‐Performance and More Sustainable Insulation

Journal of Applied Polymer Science, EarlyView.
Thermal black improves polyurethane foam structure and stability. It helps the foam rise smoothly while promoting the formation of smaller, more uniform cells. The foam keeps its strength and insulation performance while reducing shrinkage. Its clean production and easy processing make it a sustainable, cost‐effective option for high‐performance ...
Mihaela Mihai, Adrien Faye, Sajjad Saeidlou, Edward Norton   +3 more
wiley   +1 more source

Kırsal Bölgede Yaşayan Hipertansiyonlu Bireylerin Öz Etkililik ve İlaç Uyumu

Lokman Hekim Dergisi
Amaç: Hipertansiyonda öz etkililik ve ilaç uyumu hastalık yönetiminin temel bileşenleridir. Bu çalışmanın amacı kırsalda yaşayan hipertansiyonlu hastalarda öz etkililik ve ilaç uyum durumlarının değerlendirilmesi ve etki eden faktörlerin belirlenmesidir ...
Nilüfer Emre, Tamer Edirne, Aysun Özşahin, Burhan Poyraz   +3 more
doaj   +1 more source

Quantum Phenomena in Molecular and Biological Systems: A Decoherence‐Based Decision Framework With Falsifiable Predictions and a Failure‐Mode Taxonomy

Advanced Physics Research, EarlyView.
A physics‐grounded framework based on decoherence timescales (τ_dec vs τ_func), Markovian validity, and falsifiability criteria is applied across molecular systems to distinguish where quantum effects are necessary, marginal, or irrelevant. The analysis integrates quantum chemistry, biological quantum mechanisms, and quantum computing under a unified ...
Sarfaraz K. Niazi
wiley   +1 more source

Fine Particulate Matter Constituents, Ozone, and Systemic Lupus Erythematosus: A Large General‐Population Cohort Analysis With Extended Quantile g‐Computation

Arthritis &Rheumatology, EarlyView.
Objective The aim of this study was to investigate whether exposure to mixture of individual fine particulate matter (PM2.5) chemical constituents is associated with incident systemic lupus erythematosus (SLE) and if ozone modifies this association and/or is associated with SLE onset.
Naizhuo Zhao, Sasha Bernatsky, Sharon Dowell, Brittany Banbury, Jeffrey R. Curtis, Grace C. Wright, Emily E. Holladay, Amy Mudano, Cristiano S. Moura, Gail S. Kerr   +9 more
wiley   +1 more source

Yurtta Kalan Üniversite Öğrencilerinin Duygu Düzenleme ile Öz-Şefkat Düzeyleri Arasındaki İlişkinin İncelenmesi

Necmettin Erbakan Üniversitesi Ahmet Keleşoğlu Eğitim Fakültesi Dergisi, 2020
Bu araştırmanın amacı yurtta kalan üniversite öğrencilerinin duygu düzenleme ile öz-şefkat düzeyleri arasındaki ilişkinin incelenmesidir. Araştırmanın çalışma grubunu, 260’ı kadın ve 145’i erkek olmak üzere toplam 405 yurtta kalan üniversite öğrencisi ...
Saliha Gün, Osman Oğulcan Türkmen, S.barbaros Yalcin   +2 more
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