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251 results

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Page 1
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Avila M, et al. Among authors: nunes ml. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.
[News for adrenal insufficiency].
Nunes ML, Tabarin A. Nunes ML, et al. Ann Endocrinol (Paris). 2008 Sep;69 Suppl 1:S44-52. doi: 10.1016/S0003-4266(08)73968-4. Ann Endocrinol (Paris). 2008. PMID: 18954859 Review. French.
ILAE neonatal seizure framework to aide in determining etiology.
Yozawitz EG, Cilio MR, Mizrahi EM, Moon JY, Moshé SL, Nunes ML, Plouin P, Zuberi S, Pressler RM. Yozawitz EG, et al. Among authors: nunes ml. Epileptic Disord. 2024 Nov 27. doi: 10.1002/epd2.20312. Online ahead of print. Epileptic Disord. 2024. PMID: 39601188
Neurodevelopment and climate change.
Nunes ML, da Cunha AJLA. Nunes ML, et al. J Pediatr (Rio J). 2024 Nov 21:S0021-7557(24)00141-4. doi: 10.1016/j.jped.2024.10.005. Online ahead of print. J Pediatr (Rio J). 2024. PMID: 39581565 Free article. Review.
Defining neonatal status epilepticus: A scoping review from the ILAE neonatal task force.
Nunes ML, Yozawitz EG, Wusthoff CJ, Shellhaas RA, Olivas-Peña E, Wilmshurst JM, Pressler RM, Triki CC, Hartmann H, Inder T, Boylan GB, Valente K, Moshe SL, Mizrahi EM, Abend NS. Nunes ML, et al. Epilepsia Open. 2024 Nov 14. doi: 10.1002/epi4.13090. Online ahead of print. Epilepsia Open. 2024. PMID: 39540265 Free article. Review.
Protein Hydrolysates from Salmon Heads and Cape Hake By-Products: Comparing Enzymatic Method with Subcritical Water Extraction on Bioactivity Properties.
Pires C, Leitão M, Sapatinha M, Gonçalves A, Oliveira H, Nunes ML, Teixeira B, Mendes R, Camacho C, Machado M, Pintado M, Ribeiro AR, Vieira EF, Delerue-Matos C, Lourenço HM, Marques A. Pires C, et al. Among authors: nunes ml. Foods. 2024 Jul 30;13(15):2418. doi: 10.3390/foods13152418. Foods. 2024. PMID: 39123610 Free PMC article.
251 results