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Pediatric Patients with Von Hippel-Lindau and Hemangioblastomas Treated Successfully with Belzutifan E Duan, M Robinson, C Davis, S Pruthi, M Lewis, J Martinez-Agosto, ... Authorea Preprints, 2024 | | 2024 |
Effect of a nutritional intervention based on an energy-reduced Mediterranean diet on environmental impact L Álvarez-Álvarez, M Rubín-García, F Vitelli-Storelli, S García, C Bouzas, ... Science of the Total Environment 928, 172610, 2024 | | 2024 |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis J Pucel, LC Briere, C Reuter, P Gochyyev, MT Acosta, DR Adams, ... Genetics in Medicine 26 (6), 101115, 2024 | | 2024 |
Association between type 2 diabetes and depressive symptoms after a 1-year follow-up in an older adult Mediterranean population I Baenas, L Camacho-Barcia, R Granero, C Razquin, D Corella, ... Journal of endocrinological investigation 47 (6), 1405-1418, 2024 | | 2024 |
Inflammatory markers as diagnostic and precision nutrition tools for metabolic dysfunction-associated steatotic liver disease: Results from the Fatty Liver in Obesity trial P Mogna-Peláez, JI Riezu-Boj, FI Milagro, JI Herrero, M Elorz, ... Clinical Nutrition, 2024 | | 2024 |
Enhancing multi‐site autism research through the development of a collaborative data platform JT Anderson, JD Roth, KA Rosenau, PS Dwyer, AA Kuo, ... Autism Research, 2024 | | 2024 |
Multipanel Approach including miRNAs, Inflammatory Markers, and Depressive Symptoms for Metabolic Dysfunction-Associated Steatotic Liver Disease Diagnosis during 2-Year … AL Tobaruela-Resola, JI Riezu-Boj, FI Milagro, P Mogna-Pelaez, ... Nutrients 16 (11), 1547, 2024 | | 2024 |
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. JN Kohler, NR Legro, D Baldridge, J Shin, A Bowman, B Ugur, ... Genetics in Medicine, 101166, 2024 | | 2024 |
Biological Rhythms, Chrono-Nutrition, and Gut Microbiota: Epigenomics Insights for Precision Nutrition and Metabolic Health NC de Oliveira Melo, A Cuevas-Sierra, VF Souto, JA Martínez Biomolecules 14 (5), 559, 2024 | | 2024 |
Ultraprocessed Food Consumption and Cardiometabolic Risk Factors in Children N Khoury, MÁ Martínez, TE Garcidueñas-Fimbres, B Pastor-Villaescusa, ... JAMA Network Open 7 (5), e2411852-e2411852, 2024 | | 2024 |
Bi-allelic LAMP3 Variants in Three Children With Interstitial Lung Disease: Evidence of a Novel Disease-gene Association D Hinds, L Keehan, AJ Fischer, D Bonner, J Bernstein, M Wheeler, ... D28. PEDIATRIC PULMONOLOGY BENCH-TO-BEDSIDE: GENETICS, WHOLE-EXOME …, 2024 | | 2024 |
Impact of mediterranean diet promotion on environmental sustainability: a longitudinal analysis L Álvarez-Álvarez, F Vitelli-Storelli, M Rubín-García, S García, C Bouzas, ... Public Health 230, 12-20, 2024 | 3 | 2024 |
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing J Zhao, N Longo, RG Lewis, TJ Nicholas, SE Boyden, A Andrews, ... American Journal of Medical Genetics Part A 194 (5), e63516, 2024 | | 2024 |
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules DO Dodd, S Mechaussier, PL Yeyati, F McPhie, JR Anderson, CJ Khoo, ... Science 384 (6694), eadf5489, 2024 | 1 | 2024 |
VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders R Yin, A Gutierrez, UD Network, SN Kobren, P Avillach medRxiv, 2024 | | 2024 |
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms L Fitzsimmons, UD Network, B Beaulieu-Jones, SN Kobren medRxiv, 2024 | | 2024 |
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant E Stellacci, JN Carter, L Pannone, D Stevenson, D Moslehi, S Venanzi, ... American Journal of Medical Genetics Part A, e63627, 2024 | | 2024 |
Nutritional and Lifestyle Features in a Mediterranean Cohort: An Epidemiological Instrument for Categorizing Metabotypes Based on a Computational Algorithm A García-Perea, E Fernández-Cruz, V de la O-Pascual, ... Medicina 60 (4), 610, 2024 | | 2024 |
Acute and two-week effects of neotame, stevia rebaudioside M and sucrose-sweetened biscuits on postprandial appetite and endocrine response in adults with overweight/obesity—a … C Gibbons, K Beaulieu, E Almiron-Roig, S Navas-Carretero, JA Martínez, ... EBioMedicine 102, 2024 | 1 | 2024 |