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Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|March 21, 2020
Decreased Brain Volumes and Infants With Congenital Heart Disease Undergoing Venoarterial Extracorporeal Membrane OxygenationBrandon K Chao, Nathalie H P Claessens, Jessie Mei Lim, et al.
Annals of Clinical and Translational Neurology|September 21, 2016
Interplay of brain structure and function in neonatal congenital heart diseaseAla Birca, Vasily A Vakorin, Prashob Porayette, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric populationBita Hashemi, Anne Bassett, David Chitayat, et al.
American Journal of Human Genetics|March 6, 2012
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signalingAmy E Merrill, Anna Sarukhanov, Pavel Krejci, et al.
The American Journal of Psychiatry|October 7, 2015
Reproductive Safety of Second-Generation Antipsychotics: Current Data From the Massachusetts General Hospital National Pregnancy Registry for Atypical AntipsychoticsLee S Cohen, Adele C Viguera, Kathryn A McInerney, et al.
American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
Cellular and Molecular Gastroenterology and Hepatology|July 25, 2015
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaAbdul Elkadri, Cornelia Thoeni, Sophie J Deharvengt, et al.
Human Molecular Genetics|May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.
Journal of Medical Genetics|March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletionsAnn M Joseph-George, Yongshu He, Christian R Marshall, et al.
Nature Communications|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibilityDebjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, et al.
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