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1
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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2
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

McConkie-Rosell, Allyn ; Spillmann, Rebecca C ; Schoch, Kelly ; Sullivan, Jennifer A ; Walley, Nicole ; McDonald, Marie ; Hooper, Stephen R ; Shashi, Vandana

Journal of genetic counseling, 2023-10, Vol.32 (5), p.993-1008 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome

Ghusayni, Ryan ; Sachdev, Monisha ; Gallentine, William ; Mikati, Mohamad A ; McDonald, Marie T

Epileptic disorders, 2018-02, Vol.20 (1), p.30-34 [Periódico revisado por pares]

France: Wiley Subscription Services, Inc

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4
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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5
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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6
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Kreienkamp, Hans-Jürgen ; Wagner, Matias ; Weigand, Heike ; McConkie-Rossell, Allyn ; McDonald, Marie ; Keren, Boris ; Mignot, Cyril ; Gauthier, Julie ; Soucy, Jean-François ; Michaud, Jacques L. ; Dumas, Meghan ; Smith, Rosemarie ; Löbel, Ulrike ; Hempel, Maja ; Kubisch, Christian ; Denecke, Jonas ; Campeau, Philippe M. ; Bain, Jennifer M. ; Lessel, Davor

Human genetics, 2022-02, Vol.141 (2), p.257-272 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis
Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis
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Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis

Coulter, Elaine H. ; McDonald, Marie Therese ; Cameron, Sara ; Siebert, Stefan ; Paul, Lorna

Rheumatology international, 2020-03, Vol.40 (3), p.375-381 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
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Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Tran, Linh ; Richards, Jason ; McDonald, Marie ; McConkie‐Rosell, Allyn ; Stong, Nicholas ; Jasien, Joan ; Shashi, Vandana ; Mikati, Mohamad A.

Epileptic disorders, 2020-02, Vol.22 (1), p.103-109 [Periódico revisado por pares]

France: Wiley Subscription Services, Inc

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9
Effects of an ageing population and the replacement of immune birth cohorts on the burden of hepatitis A in the Netherlands
Effects of an ageing population and the replacement of immune birth cohorts on the burden of hepatitis A in the Netherlands
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Effects of an ageing population and the replacement of immune birth cohorts on the burden of hepatitis A in the Netherlands

McDonald, Scott A ; Mangen, Marie-Josée J ; Suijkerbuijk, Anita ; Colzani, Edoardo ; Kretzschmar, Mirjam E E

BMC infectious diseases, 2013-03, Vol.13 (1), p.120-120, Article 120 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia ; Sharp, Angela ; Chen, Yunjia ; Hicks, Alesha D ; Aylsworth, Arthur S ; Azizi, Amedeo A ; Basel, Donald G ; Bellus, Gary ; Bird, Lynne M ; Blazo, Maria A ; Burke, Leah W ; Cannon, Ashley ; Collins, Felicity ; DeFilippo, Colette ; Denayer, Ellen ; Digilio, Maria C ; Dills, Shelley K ; Dosa, Laura ; Greenwood, Robert S ; Griffis, Cristin ; Gupta, Punita ; Hachen, Rachel K ; Hernandez-Chico, Concepcion ; Janssens, Sandra ; Jones, Kristi J ; Jordan, Justin T ; Kannu, Peter ; Korf, Bruce R ; Lewis, Andrea M ; Listernick, Robert H ; Lonardo, Fortunato ; Mahoney, Maurice J ; Ojeda, Mayra Martinez ; McDonald, Marie T ; McDougall, Carey ; Mendelsohn, Nancy ; Miller, David T ; Mori, Mari ; Oostenbrink, Rianne ; Perreault, Sebastian ; Pierpont, Mary Ella ; Piscopo, Carmelo ; Pond, Dinel A ; Randolph, Linda M ; Rauen, Katherine A ; Rednam, Surya ; Rutledge, S. Lane ; Saletti, Veronica ; Schaefer, G. Bradley ; Schorry, Elizabeth K ; Scott, Daryl A ; Shugar, Andrea ; Siqveland, Elizabeth ; Starr, Lois J ; Syed, Ashraf ; Trapane, Pamela L ; Ullrich, Nicole J ; Wakefield, Emily G ; Walsh, Laurence E ; Wangler, Michael F ; Zackai, Elaine ; Claes, Kathleen B.M ; Wimmer, Katharina ; van Minkelen, Rick ; De Luca, Alessandro ; Martin, Yolanda ; Legius, Eric ; Messiaen, Ludwine M

GENETICS IN MEDICINE, 2019-04, Vol.21 (4), p.867-876 [Periódico revisado por pares]

NATURE PUBLISHING GROUP

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