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

URL الوصول: https://doaj.org/article/7a6f2b28ee0648df98cc0e6225b74bb8

المؤلفون: Daniel Backenroth, Gheona Altarescu, Fouad Zahdeh, Tzvia Mann, Omer Murik, Paul Renbaum, Reeval Segel, Sharon Zeligson, Elinor Hakam-Spector, Shai Carmi, David A. Zeevi

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/69a704d99591414cb15f84c5e26fb2de

المؤلفون: Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti

المصدر: Frontiers in Pharmacology, Vol 14 (2023)

مصطلحات موضوعية: cerebellar ataxia, mitochondrial disease, proteostasis, pioglitazone, neurodegenaration, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2023.1220620/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/a234703503564db9b218a1bf2199630d

المؤلفون: Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y. Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eiges

المصدر: Stem Cell Reports, Vol 5, Iss 2, Pp 221-231 (2015)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671115001848; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/cd5a02d6a12048d9aca4c072ca981984

المؤلفون: Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges

المصدر: Stem Cell Reports, Vol 3, Iss 5, Pp 699-706 (2014)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671114002860; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/84318ba0cb7e4d1589dd771a8dc09b08

المؤلفون: Inbal Gazy, David A Zeevi, Paul Renbaum, Sharon Zeligson, Lital Eini, Dana Bashari, Yoav Smith, Amnon Lahad, Michal Goldberg, Doron Ginsberg, Ephrat Levy-Lahad

المصدر: PLoS ONE, Vol 10, Iss 7, p e0134120 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6f1ab59491a44b51971a3152e973f86d

المؤلفون: Silvina Epsztejn-Litman, Yaara Cohen-Hadad, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Ephrat Levy-Lahad, Oshrat Schonberger, Talia Eldar-Geva, Sharon Zeligson, Rachel Eiges

المصدر: PLoS ONE, Vol 10, Iss 10, p e0138893 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4608834?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bb761332d1524f5ea4556bdea104c1ed

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

مصطلحات موضوعية: Genetics, EvORanker, Gene-based prioritization, DLGAP2, LPCAT3

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Using_multi-scale_genomics_to_associate_poorly_annotated_genes_with_rare_diseases/24946474

الاتاحة: https://doi.org/10.6084/m9.figshare.24946474.v1
https://figshare.com/articles/dataset/Additional_file_1_of_Using_multi-scale_genomics_to_associate_poorly_annotated_genes_with_rare_diseases/24946474

المؤلفون: Tal Freund, Sarah K. Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, Michal Abramsohn-Goldenberg, Shira Benor, Nadav Sarid, Ron Ram, Yifat Alcalay, Reeval Segel, Paul Renbaum, Polina Stepensky, Mary-Claire King, Troy R. Torgerson, David Hagin

المصدر: Journal of Clinical Immunology. 43:151-164

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f350bdb680d1fe2079e01a3345208412
https://doi.org/10.1007/s10875-022-01358-7

المؤلفون: Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti

مصطلحات موضوعية: Pharmacology, Basic Pharmacology, Clinical Pharmacology and Therapeutics, Clinical Pharmacy and Pharmacy Practice, Pharmaceutical Sciences, Pharmacogenomics, Toxicology (incl. Clinical Toxicology), Pharmacology and Pharmaceutical Sciences not elsewhere classified, cerebellar ataxia, mitochondrial disease, proteostasis, pioglitazone, neurodegenaration

Relation: https://figshare.com/articles/figure/Image1_PPAR-gamma_agonist_pioglitazone_recovers_mitochondrial_quality_control_in_fibroblasts_from_PITRM1-deficient_patients_TIF/23762517

الاتاحة: https://doi.org/10.3389/fphar.2023.1220620.s001
https://figshare.com/articles/figure/Image1_PPAR-gamma_agonist_pioglitazone_recovers_mitochondrial_quality_control_in_fibroblasts_from_PITRM1-deficient_patients_TIF/23762517

المؤلفون: Alla Kuzminsky, Liora Sagi, Adi Aran, Luba Blumkin, Tehila Klopstock, Dorit Lev, Dafna Guttman, Lilach Shemer Meiri, Reeval Segel, Suleyman Gulsuner, Michal Yechieli, Mary Claire King, Varda Gross-Tsur, Aviva Fattal, Paul Renbaum, Hilla Ben-Pazi, Ephrat Lahad Levy, Sharon Zeligson, Nira Schneebaum Sender, Dorit Shmueli, Thomas J. Walsh, Amnon Lahad

المصدر: Journal of Medical Genetics. 59:759-767

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Candidate gene, Movement disorders, DNA Copy Number Variations, Microarray, medicine.disease_cause, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Genetic testing, Mutation, medicine.diagnostic_test, business.industry, Cerebral Palsy, Point mutation, Microarray Analysis, medicine.disease, 030104 developmental biology, Child, Preschool, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38651cbf030aa40871531f9535a83b74
https://doi.org/10.1136/jmedgenet-2021-107884

المؤلفون: Elinor Hakam-Spector, Tzvia Mann, Gheona Altarescu, Shai Carmi, Paul Renbaum, Fouad Zahdeh, Adi Ben-Yehuda, Reeval Segel, David A. Zeevi, Ido Ben-Ami, Daniel Backenroth, Talia Eldar-Geva, Sharon Zeligson

المصدر: Genetics in Medicine. 23:1334-1340

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.diagnostic_test, Haplotype, Chromosome, 030105 genetics & heredity, Biology, law.invention, 03 medical and health sciences, 030104 developmental biology, Polymorphism (computer science), law, medicine, SNP, Genotyping, Genetics (clinical), X chromosome, Polymerase chain reaction, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f16a2f5627410208f0a9dff5b54fd38
https://doi.org/10.1038/s41436-021-01145-6

المؤلفون: Mary Claire King, Adi Aran, Tom Walsh, Kouichi Funato, Ephrat Levy-Lahad, Haruka Okai, Tzvia Rosen, Hiroto Denda, Hiroki Nakamura, Paul Renbaum, Sharon Zeligson, Katsuki Eto, Suleyman Gulsuner, Reeval Segel, Rachel Beeri

المصدر: neurogenetics. 21:259-267

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Glycosylphosphatidylinositols, Mutant, Golgi Apparatus, Endoplasmic Reticulum, medicine.disease_cause, Mannosyltransferases, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Glycolipid, Protein Domains, Seizures, Intellectual Disability, Genetics, medicine, Humans, Child, Genetics (clinical), Brain Diseases, Mutation, Chemistry, Endoplasmic reticulum, Genetic Complementation Test, Homozygote, Temperature, Membrane Proteins, Fibroblasts, Golgi apparatus, Lipids, Sphingolipid, Transmembrane protein, Pedigree, Cell biology, carbohydrates (lipids), Complementation, 030104 developmental biology, symbols, lipids (amino acids, peptides, and proteins), Carrier Proteins, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b836c2ae0f5cd075baf3991f69273846
https://doi.org/10.1007/s10048-020-00615-4

المؤلفون: Ephrat Levy-Lahad, Sharon Zeligson, Carmit Avnon Ziv, Abdulsalam Abu-Libdeh, David Zangen, Paul Renbaum, Tehila Klopstock, Eran Lavi, Reeval Segel, Floris Levy-Khademi, Doron M. Behar, Boris Chertin, Tzvia Rosen, Shira Perlberg-Bengio, Fouad Zahdeh

المصدر: Endocrine. 69:650-654

مصطلحات موضوعية: Genetics, Sanger sequencing, Endocrinology, Diabetes and Metabolism, Haplotype, 030209 endocrinology & metabolism, Chromosome 9, Biology, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, Endocrinology, 030220 oncology & carcinogenesis, RNA splicing, Mutation (genetic algorithm), symbols, Allele, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7bf07982e4d6a37d603480ef3afe154
https://doi.org/10.1007/s12020-020-02327-z

المؤلفون: Tehila Klopstock, Maha Abdulhadi-Atwan, Ariella Weinberg-Shukron, Ephrat Levy-Lahad, Paul Renbaum, David Zangen, Muna Sharaf

المصدر: American Journal of Medical Genetics Part A. 182:1268-1272

مصطلحات موضوعية: Genetics, Mitochondrial RNA processing, Mutation, RNase P, RNA, Biology, medicine.disease, medicine.disease_cause, Short stature, RNase MRP, Dysplasia, medicine, medicine.symptom, Genetics (clinical), Ribonucleoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::949bd736d5c73d38a37d7d6610c65c00
https://doi.org/10.1002/ajmg.a.61538

المؤلفون: David Zangen, Natan Florsheim, Eran Lavi, Liya Kerem, Paul Renbaum, Ranit Cahan, Abdulsalam Abu Libdeh, Efrat Levi-Lahad, Espen Eliyahu Mendelsohn

المصدر: Journal of the Endocrine Society. 6:A621-A622

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9d645e3681525177a90d3d12a73cbc39
https://doi.org/10.1210/jendso/bvac150.1289

المؤلفون: Kouichi Funato, Atsuko Ikeda, Hiroki Nakamura, Reeval Segel, Ayumi Mizuno, Haruka Okai, Mei Kato, Paul Renbaum, Ryoko Ikema, Misako Araki

المصدر: FEBS lettersReferences. 594(15)

مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Glycosylphosphatidylinositols, Mutant, Biophysics, Mutation, Missense, Golgi Apparatus, Saccharomyces cerevisiae, Endoplasmic Reticulum, Biochemistry, 03 medical and health sciences, Structural Biology, Genetics, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, Chemistry, Endoplasmic reticulum, 030302 biochemistry & molecular biology, Membrane Proteins, Cell Biology, Flippase, Intracellular Membranes, Phenotype, Yeast, Cell biology, carbohydrates (lipids), Complementation, Cold Temperature, Amino Acid Substitution, Cytoplasm, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfaf03d56016c6157b88b6a36a6ea069
https://pubmed.ncbi.nlm.nih.gov/32449190

المؤلفون: Paul Renbaum, Ephrat Levy-Lahad, Hadar Vinograd-Byk

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Motor Disorders, lcsh:Medicine, Biology, Protein Serine-Threonine Kinases, Rotarod performance test, Article, 03 medical and health sciences, Mice, medicine, Animals, Amyotrophic lateral sclerosis, lcsh:Science, Gene knockdown, Multidisciplinary, Neurodegeneration, lcsh:R, Brain, Spinal muscular atrophy, Organ Size, medicine.disease, Cortex (botany), 030104 developmental biology, nervous system, Gene Knockdown Techniques, Rotarod Performance Test, biology.protein, Axon guidance, lcsh:Q, Neuroscience, Neurotrophin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670bb9ea1268aacf464c24e382a67775
http://link.springer.com/article/10.1038/s41598-018-29215-x

المؤلفون: Avraham Shaag, Tom Walsh, Paul Renbaum, Tomas Kirchhoff, Khedoudja Nafa, Stacey Shiovitz, Jessica B. M, Piri Welcsh, Ming K. Lee, Nathan Ellis, Kenneth Offit

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/14/4/555.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.562.8811; http://hmg.oxfordjournals.org/content/14/4/555.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.562.8811
http://hmg.oxfordjournals.org/content/14/4/555.full.pdf

المؤلفون: Ephrat Levy-Lahad, Ming K. Lee, Mary Claire King, Dima Dweik, Lara Kamal, Tamara Jaraysa, Jessica B. Mandell, Mohammad Salahat, Suhair Lolas Hamameh, Tom Walsh, Silvia Casadei, Paul Renbaum, Moein Kanaan, Amal Abu Rayyan, Suleyman Gulsuner

المصدر: International Journal of Cancer. 141:750-756

مصطلحات موضوعية: 0301 basic medicine, Oncology, Gynecology, Cancer Research, medicine.medical_specialty, business.industry, Genetic heterogeneity, PALB2, medicine.disease, Penetrance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Breast cancer, 030220 oncology & carcinogenesis, Internal medicine, medicine, Family history, skin and connective tissue diseases, Ovarian cancer, business, CHEK2, Aunt

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17461df1231e46c4afb8c39cf96c3ae3
https://doi.org/10.1002/ijc.30771