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1
The treatable traits of asthma in pregnancy: a clinical audit
The treatable traits of asthma in pregnancy: a clinical audit
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The treatable traits of asthma in pregnancy: a clinical audit

Duszyk, Katarzyna ; Marie McDonald, Vanessa ; Thomas, Dennis ; Steel, Kelly ; Gerard Gibson, Peter

ERJ open research, 2024-05, Vol.10 (3), p.748 [Periódico revisado por pares]

European Respiratory Society

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2
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

Coppola, Tiziana ; Becken, Bradford ; Van Mater, Heather ; McDonald, Marie Theresa ; Panayotti, Gabriela Maradiaga

BMC pediatrics, 2019-07, Vol.19 (1), p.245-245, Article 245 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

Cocanougher, 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 Inc

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4
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Esmaeeli 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, Ltd

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5
Cross-cultural training program on mental health care for refugees - a mixed method evaluation
Cross-cultural training program on mental health care for refugees - a mixed method evaluation
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Cross-cultural training program on mental health care for refugees - a mixed method evaluation

McDonald, Jordanos Tewelde ; Dahlin, Marie ; Bäärnhielm, Sofie

BMC medical education, 2021-10, Vol.21 (1), p.1-533, Article 533 [Periódico revisado por pares]

London: BioMed Central Ltd

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6
Effects of chronic low‐dose aspirin treatment on tumor prevention in three mouse models of intestinal tumorigenesis
Effects of chronic low‐dose aspirin treatment on tumor prevention in three mouse models of intestinal tumorigenesis
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Effects of chronic low‐dose aspirin treatment on tumor prevention in three mouse models of intestinal tumorigenesis

Rohwer, 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, Inc

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7
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Ballif, 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 G

Molecular cytogenetics, 2008-04, Vol.1 (1), p.8-8, Article 8 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations
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High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

Shieh, 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, Inc

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9
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
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Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

Beaman, Makenzie ; Fisher, Kimberley ; McDonald, Marie ; Tan, Queenie K G ; Jackson, David ; Cocanougher, Benjamin T ; Landstrom, Andrew P ; Hobbs, Charlotte A ; Cotten, Michael ; Cohen, Jennifer L

Journal of personalized medicine, 2022-11, Vol.12 (11), p.1924 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Esmaeeli 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, Inc

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