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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
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Khazaei, Sima ; Chen, Carol C.L. ; Andrade, Augusto Faria ; Kabir, Nisha ; Azarafshar, Pariya ; Morcos, Shahir M. ; França, Josiane Alves ; Lopes, Mariana ; Lund, Peder J. ; Danieau, Geoffroy ; Worme, Samantha ; Adnani, Lata ; Nzirorera, Nadine ; Chen, Xiao ; Yogarajah, Gayathri ; Russo, Caterina ; Zeinieh, Michele ; Wong, Cassandra J. ; Bryant, Laura ; Hébert, Steven ; Tong, Bethany ; Sihota, Tianna S. ; Faury, Damien ; Puligandla, Evan ; Jawhar, Wajih ; Sandy, Veronica ; Cowan, Mitra ; Nakada, Emily M. ; Jerome-Majewska, Loydie A. ; Ellezam, Benjamin ; Gomes, Carolina Cavalieri ; Denecke, Jonas ; Lessel, Davor ; McDonald, Marie T. ; Pizoli, Carolyn E. ; Taylor, Kathryn ; Cocanougher, Benjamin T. ; Bhoj, Elizabeth J. ; Gingras, Anne-Claude ; Garcia, Benjamin A. ; Lu, Chao ; Campos, Eric I. ; Kleinman, Claudia L. ; Garzia, Livia ; Jabado, Nada

Cell, 2023-03, Vol.186 (6), p.1162-1178.e20 [Periódico revisado por pares]

United States: Elsevier Inc

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3
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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4
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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5
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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6
Association between Prenatal and Postnatal Psychological Distress and Toddler Cognitive Development: A Systematic Review
Association between Prenatal and Postnatal Psychological Distress and Toddler Cognitive Development: A Systematic Review
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Association between Prenatal and Postnatal Psychological Distress and Toddler Cognitive Development: A Systematic Review

Kingston, Dawn ; McDonald, Sheila ; Austin, Marie-Paule ; Tough, Suzanne Pawluski, Jodi

PloS one, 2015-05, Vol.10 (5), p.e0126929-e0126929 [Periódico revisado por pares]

United States: Public Library of Science

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7
Identification of asthma phenotypes based on extrapulmonary treatable traits
Identification of asthma phenotypes based on extrapulmonary treatable traits
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Identification of asthma phenotypes based on extrapulmonary treatable traits

Freitas, Patricia Duarte ; Xavier, Rafaella França ; McDonald, Vanessa Marie ; Gibson, Peter Gerard ; Cordova-Rivera, Laura ; Furlanetto, Karina Couto ; de Oliveira, Joice Mara ; Carvalho-Pinto, Regina Maria ; Cukier, Alberto ; Stelmach, Rafael ; Carvalho, Celso Ricardo Fernandes

The European respiratory journal, 2021-01, Vol.57 (1), p.2000240 [Periódico revisado por pares]

England

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8
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
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The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

Larsen, Ida Signe Bohse ; Povolo, Lorenzo ; Zhou, Luping ; Tian, Weihua ; Mygind, Kasper Johansen ; Hintze, John ; Jiang, Chen ; Hartill, Verity ; Prescott, Katrina ; Johnson, Colin A ; Mullegama, Sureni V ; McConkie-Rosell, Allyn ; McDonald, Marie ; Hansen, Lars ; Vakhrushev, Sergey Y ; Schjoldager, Katrine T ; Clausen, Henrik ; Worzfeld, Thomas ; Joshi, Hiren J ; Halim, Adnan

Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (21), p.e2302584120-e2302584120 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Mutagenesis and Mapping of a Mouse Gene, Clock, Essential for Circadian Behavior
Mutagenesis and Mapping of a Mouse Gene, Clock, Essential for Circadian Behavior
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Mutagenesis and Mapping of a Mouse Gene, Clock, Essential for Circadian Behavior

Vitaterna, Martha Hotz ; King, David P. ; Chang, Anne-Marie ; Kornhauser, Jon M. ; Lowrey, Phillip L. ; McDonald, J. David ; Dove, William F. ; Pinto, Lawrence H. ; Turek, Fred W. ; Takahashi, Joseph S.

Science (American Association for the Advancement of Science), 1994-04, Vol.264 (5159), p.719-725 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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10
Systematic Review of Effective Strategies for Reducing Screen Time Among Young Children
Systematic Review of Effective Strategies for Reducing Screen Time Among Young Children
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Systematic Review of Effective Strategies for Reducing Screen Time Among Young Children

Schmidt, Marie Evans ; Haines, Jess ; O'Brien, Ashley ; McDonald, Julia ; Price, Sarah ; Sherry, Bettylou ; Taveras, Elsie M.

Obesity (Silver Spring, Md.), 2012-07, Vol.20 (7), p.1338-1354 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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