Search Results - "Boukhibar, Lamia"

The developmental genetics of biological robustness by Boukhibar, Lamia Mestek, Barkoulas, Michalis

“…Living organisms are continuously confronted with perturbations, such as environmental changes that include fluctuations in temperature and nutrient…”
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Stochastic loss and gain of symmetric divisions in the C. elegans epidermis perturbs robustness of stem cell number by Katsanos, Dimitris, Koneru, Sneha L, Mestek Boukhibar, Lamia, Gritti, Nicola, Ghose, Ritobrata, Appleford, Peter J, Doitsidou, Maria, Woollard, Alison, van Zon, Jeroen S, Poole, Richard J, Barkoulas, Michalis

“…Biological systems are subject to inherent stochasticity. Nevertheless, development is remarkably robust, ensuring the consistency of key phenotypic traits…”
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Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement by Cerbone, Manuela, Clement, Emma, McClatchey, Martin, Dobbin, Joanna, Gilbert, Clare, Keane, Morgan, Boukhibar, Lamia, Williams, Hywel, Gagunashvili, Andrey, Dattani, Mehul T, Hurst, Jane, Shah, Pratik

“…Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been…”
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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease by Wortmann, Saskia B., Meunier, Brigitte, Mestek-Boukhibar, Lamia, van den Broek, Florence, Maldonado, Elaina M., Clement, Emma, Weghuber, Daniel, Spenger, Johannes, Jaros, Zdenek, Taha, Fatma, Yue, Wyatt W., Heales, Simon J., Davison, James E., Mayr, Johannes A., Rahman, Shamima

“…We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in…”
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