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1دورية أكاديمية
المؤلفون: Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Michal Naftali, Marina Eskin-Schwartz, Ohad Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Ori Segol, Noy Azulay, Yael Goldberg
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100961- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: ACMG, Carrier screening, Community data-driven approach, Genomics, Pan-ethnic, Pathogenic founder variants, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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3دورية أكاديميةA POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
المؤلفون: Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S. Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
المصدر: Genes, Vol 15, Iss 3, p 355 (2024)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100813- (2023)
مصطلحات موضوعية: Exome sequencing, Incidental findings, Medically actionable findings, Reproduction related findings, Secondary findings, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya
المصدر: Genes, Vol 14, Iss 10, p 1854 (2023)
مصطلحات موضوعية: COL4A4, Bukharian Jews, Alport syndrome, thin basement membrane disease, hematuria, proteinuria, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: KMT5B, intellectual disability, developmental delay, de novo, macrocephaly, Pediatrics, RJ1-570
وصف الملف: electronic resource
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7
المؤلفون: Aasem Abu Shtaya, Rivka Sukenik‐Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga‐Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel‐Salmon
المصدر: Clinical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: Rivka, Sukenik-Halevy, Sharon, Perlman, Noa, Ruhrman-Shahar, Offra, Engel, Naama, Orenstein, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak, Lina, Basel-Salmon
المصدر: Prenatal Diagnosis. 42:717-724
مصطلحات موضوعية: Cohort Studies, Polyhydramnios, Fetal Growth Retardation, Phenotype, Pregnancy, Prenatal Diagnosis, Prevalence, Humans, Obstetrics and Gynecology, Exome, Female, Ultrasonography, Prenatal, Genetics (clinical)
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9
المؤلفون: Lina Basel-Salmon, Gabriel Arie Lidzbarsky, Noa Ruhrman-Shahar, Nurit Magal, Lily Bazak, Nurit Assia Batzir
المصدر: American Journal of Medical Genetics Part A. 188:369-372
مصطلحات موضوعية: Genetics, Sotos Syndrome, business.industry, Sotos syndrome, media_common.quotation_subject, Nonsense, Exons, Histone-Lysine N-Methyltransferase, medicine.disease, Exon, Codon, Nonsense, Humans, Medicine, business, Genetics (clinical), media_common
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10
المؤلفون: Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand, Dennis Witt, Peter D. Turnpenny, Víctor Faundes, Lorena Santa María, Carolina Mendoza Fuentes, Paulina Mabe, Shaun A. Hussain, Sureni V. Mullegama, Erin Torti, Barbara Oehl-Jaschkowitz, Lina Basel Salmon, Naama Orenstein, Noa Ruhrman Shahar, Ofir Hagari, Lily Bazak, Sabine Hoffjan, Carlos E. Prada, Tobias Haack, David J. Elliott
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics.
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e301c8aa682aa7ec544e815c8ac1619
https://pubmed.ncbi.nlm.nih.gov/36549593