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126 results

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Page 1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: lubin ee. Eur J Hum Genet. 2024 Aug;32(8):928-937. doi: 10.1038/s41431-024-01610-1. Epub 2024 Apr 27. Eur J Hum Genet. 2024. PMID: 38678163 Free PMC article.
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: lubin ee. Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y. Eur J Hum Genet. 2024. PMID: 39060653 Free PMC article. No abstract available.
Carcinoma of the thyroid in children--a review.
Feinmesser R, Lubin E, Segal K, Noyek A. Feinmesser R, et al. Among authors: lubin e. J Pediatr Endocrinol Metab. 1997 Nov-Dec;10(6):561-8. doi: 10.1515/jpem.1997.10.6.561. J Pediatr Endocrinol Metab. 1997. PMID: 9467125 Review.
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE, Gonzalez EM, Sangree AK, Durham EL, Klinkhammer H, Li JM, Smith SM, Layo-Carris DE, Clark KJ, Melendez-Perez AJ, Wang XM, Angireddy R, Weiss EE, Barakat TS, Mercier S, Cogné B, Koene S, Hilhorst-Hofstee Y, Rydzanicz M, Ploski R, de Los Ángeles Gómez Cano M, Palomares-Bralo M, Arévalo TB, Tan TY, Gallacher L, MacFarland SP, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJK. Lubin EE, et al. HGG Adv. 2025 Jul 10;6(3):100440. doi: 10.1016/j.xhgg.2025.100440. Epub 2025 Apr 15. HGG Adv. 2025. PMID: 40241305 Free PMC article.
Brain tumors.
Lubin E. Lubin E. N Engl J Med. 2001 May 10;344(19):1478; author reply 1479. N Engl J Med. 2001. PMID: 11357843 No abstract available.
Antithyroid drugs.
Lubin E. Lubin E. N Engl J Med. 2005 May 26;352(21):2246-7; author reply 2246-7. N Engl J Med. 2005. PMID: 15926209 No abstract available.
Tactile processing in mouse cortex depends on action context.
Finkel EA, Chang YT, Dasgupta R, Lubin EE, Xu D, Minamisawa G, Chang AJ, Cohen JY, O'Connor DH. Finkel EA, et al. Among authors: lubin ee. Cell Rep. 2024 Apr 23;43(4):113991. doi: 10.1016/j.celrep.2024.113991. Epub 2024 Apr 3. Cell Rep. 2024. PMID: 38573855 Free PMC article.
Stable Representations of Decision Variables for Flexible Behavior.
Bari BA, Grossman CD, Lubin EE, Rajagopalan AE, Cressy JI, Cohen JY. Bari BA, et al. Among authors: lubin ee. Neuron. 2019 Sep 4;103(5):922-933.e7. doi: 10.1016/j.neuron.2019.06.001. Epub 2019 Jul 4. Neuron. 2019. PMID: 31280924 Free PMC article.
A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.
Sangree AK, Angireddy R, Bhattarai JP, Wang Y, Bryant LM, Waxman EA, Layo-Carris DE, Durham EE, Katsura KA, Lubin EE, Wang XM, Clark KJ, Ma M, Bhoj EJ. Sangree AK, et al. Among authors: lubin ee. bioRxiv [Preprint]. 2025 Sep 23:2024.08.26.609745. doi: 10.1101/2024.08.26.609745. bioRxiv. 2025. PMID: 39253491 Free PMC article. Preprint.
126 results