المؤلفون: Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100650- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006507; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7f60b552831447d693790d4f469fbeb8

المؤلفون: Elinette M Albino, Karen Martinez, Simon Carlo, Cristel Chapel-Crespo, Antonio Ortiz, Alberto Santiago-Cornier, Frances Velez-Bartolomei, Carmen Buxo

المصدر: Journal of Clinical and Translational Science, Vol 7, Pp 97-97 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2059866123003734/type/journal_article; https://doaj.org/toc/2059-8661

URL الوصول: https://doaj.org/article/609747c9eb4f457c85a677fcab1818b9

المؤلفون: Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandres‐Ciga, Brittany N. Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F. Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo

المصدر: American Journal of Medical Genetics Part A. 191:930-940

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19a1f41cddc9d40b67f93802a51d42ff
https://doi.org/10.1002/ajmg.a.63097

المؤلفون: Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L. Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Lourenco, Sheri A. Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M. Wang, Kimiyo M. Raymond, Matthew J. Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He

المصدر: J Inherit Metab Dis

مصطلحات موضوعية: Genetics, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6be999f0b3a105c52b720c970f8e207
https://europepmc.org/articles/PMC10047170/

المؤلفون: Gregory M. Enns, Rebecca J. Levy, Maura R.Z. Ruzhnikov, Jose Andres Morales, Brendan J Floyd, Kristina Cusmano-Ozog, Chung Lee, Ariel S Lee, Annette Feigenbaum, Christina G. Tise, Frances Velez-Bartolomei

المصدر: American Journal of Medical Genetics Part A. 185:1848-1853

مصطلحات موضوعية: 0301 basic medicine, Proband, endocrine system, Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, 030105 genetics & heredity, medicine.disease, Clinical trial, 03 medical and health sciences, 030104 developmental biology, X-linked adrenoleukodystrophy, Genetics, Medicine, Aicardi–Goutières syndrome, lipids (amino acids, peptides, and proteins), Adrenoleukodystrophy, Age of onset, Differential diagnosis, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3e49e482adb9bab0c9d0290e753bd82
https://doi.org/10.1002/ajmg.a.62160

المؤلفون: Jose Pascual, Edwin Rodriguez, Cristal Hernandez-Hernandez, Simon Carlo, Frances Velez-Bartolomei, Alberto Santiago Cornier

المصدر: AME Case Rep

مصطلحات موضوعية: Microcephaly, business.industry, Lissencephaly, Case Report, General Medicine, Anatomy, medicine.disease, Hypoplasia, Colpocephaly, medicine.anatomical_structure, Palpebral fissure, medicine, Eyelid, Plagiocephaly, business, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c3e2df3d0da93986922df3d50aa160
https://europepmc.org/articles/PMC8572670/

المؤلفون: Ethan E. Bodle, Jonathan A. Bernstein, Ana Tesi-Rocha, Frances Velez-Bartolomei, Pengfei Liu, Wenmiao Zhu

المصدر: Pediatric neurology. 114

مصطلحات موضوعية: Male, Bioinformatics, DNA sequencing, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Complementary DNA, RNA analysis, Medicine, Humans, Exome sequencing, Whole genome sequencing, Respiratory Distress Syndrome, Newborn, Respiratory distress, Whole Genome Sequencing, business.industry, Sequence Analysis, RNA, Infant, Spinal muscular atrophy, medicine.disease, DNA-Binding Proteins, Neurology, Respiratory failure, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e62fe53d9c79c8380894890040c94db
https://pubmed.ncbi.nlm.nih.gov/33189025

المؤلفون: José Vázquez Rodríguez, Milexis Santos, Génesis Serrano Rodríguez, Simon Carlo, Frances Velez-Bartolomei, Alberto Santiago Cornier

المصدر: Genetics in Medicine. 24:S169

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe2df283a7669cb530ba01838af0aa0e
https://doi.org/10.1016/j.gim.2022.01.302

المؤلفون: J. Andres Morales, Chung Lee, Jonathan A. Bernstein, Christina G. Tise, Frances Velez-Bartolomei, Gregory M. Enns

المصدر: Molecular Genetics and Metabolism. 132:S354

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, In patient, Medical diagnosis, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4da315c6fb9f262ead9e22cb53d5cf6c
https://doi.org/10.1016/s1096-7192(21)00622-3