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1 |
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The treatable traits of asthma in pregnancy: a clinical auditDuszyk, Katarzyna ; Marie McDonald, Vanessa ; Thomas, Dennis ; Steel, Kelly ; Gerard Gibson, PeterERJ open research, 2024-05, Vol.10 (3), p.748 [Periódico revisado por pares]European Respiratory SocietyTexto completo disponível |
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Material Type: Artigo
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weaknessCoppola, Tiziana ; Becken, Bradford ; Van Mater, Heather ; McDonald, Marie Theresa ; Panayotti, Gabriela MaradiagaBMC pediatrics, 2019-07, Vol.19 (1), p.245-245, Article 245 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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The severity of MUSK pathogenic variants is predicted by the protein domain they disruptCocanougher, Benjamin T. ; Liu, Samuel W. ; Francescatto, Ludmila ; Behura, Alexander ; Anneling, Mariele ; Jackson, David G. ; Deak, Kristen L. ; Hornik, Chi D. ; ElMallah, Mai K. ; Pizoli, Carolyn E. ; Smith, Edward C. ; Tan, Khoon Ghee Queenie ; McDonald, Marie T.HGG advances, 2024-07, Vol.5 (3), p.100288, Article 100288 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophyEsmaeeli Nieh, Sahar ; Madou, Maura R. Z. ; Sirajuddin, Minhajuddin ; Fregeau, Brieana ; McKnight, Dianalee ; Lexa, Katrina ; Strober, Jonathan ; Spaeth, Christine ; Hallinan, Barbara E. ; Smaoui, Nizar ; Pappas, John G. ; Burrow, Thomas A. ; McDonald, Marie T. ; Latibashvili, Mariam ; Leshinsky‐Silver, Esther ; Lev, Dorit ; Blumkin, Luba ; Vale, Ronald D. ; Barkovich, Anthony James ; Sherr, Elliott H.Annals of clinical and translational neurology, 2015-06, Vol.2 (6), p.623-635 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Cross-cultural training program on mental health care for refugees - a mixed method evaluationMcDonald, Jordanos Tewelde ; Dahlin, Marie ; Bäärnhielm, SofieBMC medical education, 2021-10, Vol.21 (1), p.1-533, Article 533 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Effects of chronic low‐dose aspirin treatment on tumor prevention in three mouse models of intestinal tumorigenesisRohwer, Nadine ; Kühl, Anja A. ; Ostermann, Annika I. ; Hartung, Nicole Marie ; Schebb, Nils Helge ; Zopf, Dieter ; McDonald, Fiona M. ; Weylandt, Karsten‐H.Cancer medicine (Malden, MA), 2020-04, Vol.9 (7), p.2535-2550 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBallif, Blake C ; Theisen, Aaron ; Coppinger, Justine ; Gowans, Gordon C ; Hersh, Joseph H ; Madan-Khetarpal, Suneeta ; Schmidt, Karen R ; Tervo, Raymond ; Escobar, Luis F ; Friedrich, Christopher A ; McDonald, Marie ; Campbell, Lindsey ; Ming, Jeffrey E ; Zackai, Elaine H ; Bejjani, Bassem A ; Shaffer, Lisa GMolecular cytogenetics, 2008-04, Vol.1 (1), p.8-8, Article 8 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlationsShieh, Meg ; Amkraut, Keren ; Spiridigliozzi, Gail A. ; Adayev, Tatyana ; Nicholson, Kaylea ; McConkie‐Rosell, Allyn ; McDonald, Marie ; Pennington, Malinda ; Sebastian, Siby ; Lachiewicz, Ave M.Clinical case reports, 2023-06, Vol.11 (6), p.e7371-n/a [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine PipelineBeaman, Makenzie ; Fisher, Kimberley ; McDonald, Marie ; Tan, Queenie K G ; Jackson, David ; Cocanougher, Benjamin T ; Landstrom, Andrew P ; Hobbs, Charlotte A ; Cotten, Michael ; Cohen, Jennifer LJournal of personalized medicine, 2022-11, Vol.12 (11), p.1924 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophyEsmaeeli Nieh, Sahar ; Madou, Maura R. Z. ; Sirajuddin, Minhajuddin ; Fregeau, Brieana ; McKnight, Dianalee ; Lexa, Katrina ; Strober, Jonathan ; Spaeth, Christine ; Hallinan, Barbara E. ; Smaoui, Nizar ; Pappas, John G. ; Burrow, Thomas A. ; McDonald, Marie T. ; Latibashvili, Mariam ; Leshinsky‐Silver, Esther ; Lev, Dorit ; Blumkin, Luba ; Vale, Ronald D. ; Barkovich, Anthony James ; Sherr, Elliott H.Annals of clinical and translational neurology, 2015-06, Vol.2 (6), p.623-635 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |