المؤلفون: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

المؤلفون: Kaitlin Weisshappel, Juanita Neira Fresneda, Matthew Walsh

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101064- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002103; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c5ef2e509bbf4c10b4f4b442a31ebe3a

المؤلفون: Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R. Rosen, Patricia L. Hall, Juanita Neira Fresneda

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 53 (2023)

مصطلحات موضوعية: VLCADD, caregiver, barriers, medical diet, rhabdomyolysis, cardiomyopathy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/4/53; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/a52652d262d2492898244d5ed1351b69

المؤلفون: Sarah Crawford, Juanita Neira Fresneda, Elizabeth Sablon, Ami Rosen, Nadia Ali, Emalyn Cork

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100020- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000201; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/cc99d1969be348f980ec775c56f7c384

المؤلفون: Claudia Ocampo-Chih, Hailey Dennis, Neil Lall, Nga Pham, Bo Liang, Sumit Verma, Juanita Neira Fresneda

المصدر: Pediatric neurology. 139

مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20791b2e8114980c9a2933536a4f7489
https://pubmed.ncbi.nlm.nih.gov/36527993

المؤلفون: Michael A. Swanson, Kristen Miller, Sarah P. Young, Suhong Tong, Lina Ghaloul‐Gonzalez, Juanita Neira‐Fresneda, Lisa Schlichting, Cheryl Peck, Linda Gabel, Marisa W. Friederich, Johan L. K. Van Hove

المصدر: Journal of inherited metabolic disease. 45(4)

مصطلحات موضوعية: Threonine, Cross-Sectional Studies, Hyperglycinemia, Nonketotic, Genetics, Glycine, Infant, Newborn, Serine, Humans, Amino Acids, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d7fcc6c25d786a341250868f42701e
https://pubmed.ncbi.nlm.nih.gov/35357708

المؤلفون: Anna R. Duncan, Tatjana Bierhals, Michael Pusch, Pamela Hawley, Amy Kritzer, Dagmar Wieczorek, Emanuele Agolini, Causes Study, Antonio Novelli, Raúl Estévez, Thomas J. Jentsch, Patricia Ellen Grant, Konrad Platzer, Margarete Koch-Hogrebe, Héctor Gaitán-Peñas, Andrea Maiorana, Anne H. O’Donnell-Luria, Johannes Luppe, Klaus Schmitz-Abe, Giovanna Stefania Colafati, Elliott H. Sherr, Pankaj B. Agrawal, Zaheer Valivullah, Elaina M England, Cornelius F. Boerkoel, Alysia Kern Lovgren, Lorne A. Clarke, Grace E. VanNoy, Emanuela Argilli, Kimberly Seath, Sara Bertelli, Maja Hempel, Anna Lehman, Thilo Diel, Maya M. Polovitskaya, Jill A. Madden, Yvette van Ierland, Rami Abou Jamra, Juanita Neira-Fresneda, Paolo Alfieri

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 108(8), 1450-1465. Cell Press
Am J Hum Genet
American journal of human genetics, vol 108, iss 8

مصطلحات موضوعية: Male, hippocampus, gain of function, Xenopus, Medical and Health Sciences, Ion Channels, acidification, Mice, 2.1 Biological and endogenous factors, Missense mutation, Global developmental delay, Aetiology, Agenesis of the corpus callosum, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, Mice, Knockout, Neurodegeneration, Homozygote, Biological Sciences, pH sensitivity, Phenotype, Mental Health, intellectual disability, voltage gated chloride channel, Child, Preschool, Neurological, Female, Adolescent, Knockout, Intellectual and Developmental Disabilities (IDD), Biology, neurodevelopmental delay, Article, Frameshift mutation, CAUSES Study, SDG 3 - Good Health and Well-being, Chloride Channels, medicine, Animals, Humans, Preschool, Gene, Animal, Neurosciences, Infant, Newborn, Infant, Newborn, CLCN, medicine.disease, biology.organism_classification, Brain Disorders, Disease Models, Animal, Neurodevelopmental Disorders, Disease Models, Mutation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19ddf58038b016a5c46da7b4d76ed08
https://pure.eur.nl/en/publications/d1b341d3-fea8-47ac-9ac3-b9d8d2d13e1e

المؤلفون: Juanita Neira-Fresneda, Lorraine Potocki, Rachel Franciskovich, Claudia Soler-Alfonso, Bonnie McCann-Crosby, James R. Lupski

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Blood Glucose, Male, Potocki–Lupski syndrome, Pediatrics, medicine.medical_specialty, Adolescent, Chromosome Disorders, Hypoglycemia, Short stature, Article, Growth hormone deficiency, Young Adult, Intellectual disability, Chromosome Duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Insulin-Like Growth Factor I, Child, Dwarfism, Pituitary, Genetics (clinical), Comparative Genomic Hybridization, business.industry, Human Growth Hormone, Brain, Infant, Bone age, medicine.disease, Magnetic Resonance Imaging, Failure to Thrive, Insulin-Like Growth Factor Binding Protein 3, Phenotype, Child, Preschool, Failure to thrive, Etiology, Female, medicine.symptom, Smith-Magenis Syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454a9078c58c0607f8c292654f516b92
https://europepmc.org/articles/PMC8445515/

المؤلفون: Lorraine Potocki, Juanita Neira-Fresneda

المصدر: Journal of pediatric genetics. 4(3)

مصطلحات موضوعية: Genetics, Potocki–Lupski syndrome, Biology, medicine.disease, Phenotype, Gene dosage, DNA sequencing, Pediatrics, Perinatology and Child Health, Intellectual disability, medicine, Autism, Gene, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dbbc174fdb94e7a22e15401f6042f74
https://pubmed.ncbi.nlm.nih.gov/27617127