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Nature Genetics|November 26, 2009
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humansMarielle Alders, Benjamin M Hogan, Evisa Gjini, et al.
The American Journal of Gastroenterology|October 20, 2021
Classifying Esophageal Motility by FLIP Panometry: A Study of 722 Subjects With ManometryDustin A Carlson, C Prakash Gyawali, Abraham Khan, et al.
Human Mutation|October 4, 2012
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variabilityIzak J Bisschoff, Christine Zeschnigk, Denise Horn, et al.
Environmental Microbiome|April 27, 2021
Shotgun metagenomic analysis of microbial communities from the Loxahatchee nature preserve in the Florida EvergladesBriana S Abraham, Deniz Caglayan, Natalie V Carrillo, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Nature Communications|June 1, 2024
Co-aggregation with Apolipoprotein E modulates the function of Amyloid-β in Alzheimer's diseaseZengjie Xia, Emily E Prescott, Agnieszka Urbanek, et al.
European Journal of Preventive Cardiology|May 29, 2012
Importance of characteristics and modalities of physical activity and exercise in the management of cardiovascular health in individuals with cardiovascular risk factors: recommendations from the EACPR. Part IIL Vanhees, N Geladas, D Hansen, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Microbiology Resource Announcements|May 31, 2024
Complete mitochondrial genome of the introduced Indian walking stick <i>Carausius morosus</i> (Lonchodidae, Insecta) from CaliforniaAiden Clarke, Alice Trujillo, Andres Mandujano, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
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