-
1دورية أكاديمية
المؤلفون: Christina Canavati, Dana Sherill-Rofe, Lara Kamal, Idit Bloch, Fouad Zahdeh, Elad Sharon, Batel Terespolsky, Islam Abu Allan, Grace Rabie, Mariana Kawas, Hanin Kassem, Karen B. Avraham, Paul Renbaum, Ephrat Levy-Lahad, Moien Kanaan, Yuval Tabach
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-22 (2024)
مصطلحات موضوعية: EvORanker, Gene-based prioritization, DLGAP2, LPCAT3, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
-
2دورية أكاديمية
المؤلفون: Ari Elson, Merle Stein, Grace Rabie, Maayan Barnea-Zohar, Sabina Winograd-Katz, Nina Reuven, Moran Shalev, Juraj Sekeres, Moien Kanaan, Jan Tuckermann, Benjamin Geiger
المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
مصطلحات موضوعية: osteoclast, osteopetrosis, ARO, sorting nexin, SNX10, bone resorption, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
3
المؤلفون: Hashem Shahin, Christina Canavati, Fouad Zahdeh, Karen B. Avraham, Tamara Jaraysa, Grace Rabie, Amal Abu Rayyan, Ming K. Lee, Suleyman Gulsuner, Tom Walsh, Silvia Casadei, Mary Claire King, Lara Kamal, Dima Dweik, Zippora Brownstein, Ryan J. Carlson, Moien Kanaan
المصدر: Proc Natl Acad Sci U S A
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Hearing loss, Population, Consanguinity, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Middle East, Young Adult, medicine, Humans, Allele, education, Child, Hearing Loss, Gene, Alleles, Genetics, Mutation, education.field_of_study, Multidisciplinary, Genetic heterogeneity, Exons, Genomics, Middle Aged, Biological Sciences, Human genetics, Pedigree, 030104 developmental biology, Child, Preschool, Female, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4edcb442a7560f64438b0228696057
https://pubmed.ncbi.nlm.nih.gov/32747562 -
4
المؤلفون: Barbara M. Norquist, Moien Kanaan, Fouad Zahdeh, Mary Claire King, Sarah B. Pierce, Lara Kamal, Suhair Lolas, Grace Rabie, Ephrat Levy-Lahad, Amal Abu Rayyan, Orit Lobel, Christina Canavati, Tamara Jaraysa
المصدر: Cold Spring Harbor Molecular Case Studies
COLD SPRING HARBOR MOLECULAR CASE STUDIESمصطلحات موضوعية: Male, Microcephaly, GENES, anal atresia, Mutation, Missense, PROTEIN, BACH1, Biology, medicine.disease_cause, Loss of heterozygosity, Anus, Imperforate, small for gestational age, Fanconi anemia, hemic and lymphatic diseases, Medicine and Health Sciences, medicine, Missense mutation, Humans, hand polydactyly, Family, Genetic Predisposition to Disease, Alleles, REPAIR, RISK, Genetics, aplasia/hypoplasia involving bones of the upper limbs, Mutation, Bone marrow failure, BRIP1, DNA Helicases, ASSOCIATION, General Medicine, BRCA1, OVARIAN, medicine.disease, COMPLEMENTATION GROUP, Fanconi Anemia Complementation Group Proteins, Pedigree, DNA-Binding Proteins, Fanconi Anemia, Phenotype, BIALLELIC MUTATIONS, Child, Preschool, Female, Chromosome breakage, RNA Helicases, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c76acf07d5b637c84171122f169e2e9f
http://europepmc.org/articles/PMC7552932