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102 results

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Page 1
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. Carmody LC, et al. Among authors: adam mp. Med. 2023 Dec 8;4(12):913-927.e3. doi: 10.1016/j.medj.2023.10.003. Epub 2023 Nov 13. Med. 2023. PMID: 37963467 Free PMC article.
The all-or-none phenomenon revisited.
Adam MP. Adam MP. Birth Defects Res A Clin Mol Teratol. 2012 Aug;94(8):664-9. doi: 10.1002/bdra.23029. Epub 2012 Jul 17. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22807395 Review.
Maternal and paternal risk factors associated with diagnoses within the continuum of fetal alcohol spectrum disorders in the USA: Proximal and distal influences.
May PA, Hasken JM, Stegall JM, Mastro HA, Baete A, Russo J, Bozeman R, Burns MK, Jones JV, Kalberg WO, Buckley D, Abdul-Rahman O, Adam MP, Jewett T, Robinson LK, Manning MA, Hoyme HE. May PA, et al. Among authors: adam mp. Alcohol Clin Exp Res (Hoboken). 2024 Dec 12. doi: 10.1111/acer.15501. Online ahead of print. Alcohol Clin Exp Res (Hoboken). 2024. PMID: 39667847
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: adam mp. Prenat Diagn. 2024 Dec;44(13):1647-1658. doi: 10.1002/pd.6700. Epub 2024 Nov 14. Prenat Diagn. 2024. PMID: 39542847 Free PMC article.
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Marquez J, Cech JN, Paschal CR, Dingmann B, Scott AI, Thies JM, Mills MR, Albert CM, Beck AE, Beckman E, Bonkowski ES, Earl DL, Lam CT, Mefford HC, Merritt JL 2nd, Nelson Z, Ohlsen TJ, Taylor MR, Perlman SJ, Rudzinski ER, Sikes MC, Waligorski N, Wenger TL, Adam MP, Mirzaa GM, Bennett JT, Glass IA, Sternen DL, Miller DE. Marquez J, et al. Among authors: adam mp. Genet Med Open. 2024;2:101886. doi: 10.1016/j.gimo.2024.101886. Epub 2024 Aug 9. Genet Med Open. 2024. PMID: 39484203 Free PMC article.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: adam mp. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. Adam MP, et al. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21882399 Free Books & Documents. Review.
Maternal and paternal risk factors for fetal alcohol spectrum disorders: Alcohol and other drug use as proximal influences.
May PA, Hasken JM, de Vries MM, Marais AS, Abdul-Rahman O, Robinson LK, Adam MP, Manning MA, Kalberg WO, Buckley D, Seedat S, Parry CDH, Hoyme HE. May PA, et al. Among authors: adam mp. Alcohol Clin Exp Res (Hoboken). 2023 Nov;47(11):2090-2109. doi: 10.1111/acer.15193. Epub 2023 Oct 4. Alcohol Clin Exp Res (Hoboken). 2023. PMID: 38226752 Free PMC article.
102 results