Volltext-Artikel, E-Books und Literaturhinweise aus dem EBSCO Discovery Service
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von Ung, Dévina C. ; Pietrancosta, Nicolas ; Badillo, Elena Baz ; et al.
Molecular Psychiatry. 29(4):1205-1215
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von Katie L. Ayers ; Stefanie Eggers ; Ben N. Rollo ; et al.
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Schlagworte: Science
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von Stephenson, Sarah E.M. ; Costain, Gregory ; Blok, Laura E.R. ; et al.
In The American Journal of Human Genetics 7 April 2022 109(4):601-617
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von Chorin, Odelia ; Chowers, Guy ; Agbariah, Rawan ; et al.
In European Journal of Medical Genetics January 2022 65(1)
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von Merdler-Rabinowicz, Rona ; Prat, Daphna ; Pode-Shakked, Ben ; et al.
In European Journal of Medical Genetics June 2021 64(6)
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von Pode-Shakked, Ben ; Ben-Moshe, Yishay ; Barel, Ortal ; et al.
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(7):1623-1646
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von Ben Pode-Shakked ; Ortal Barel ; Amihood Singer ; et al.
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Schlagworte: Medicine; Science
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von Eyal Kristal ; Ben Pode-Shakked ; Guy Hazan ; et al.
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Schlagworte: Lysosomal storage disorder; COVID-19; Enzyme replacement therapy; Medicine
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von Pode-Shakked, Ben ; Finezilber, Yael ; Levi, Yonit ; et al.
In European Journal of Medical Genetics July 2020 63(7)
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von Merdler-Rabinowicz, Rona ; Pode-Shakked, Ben ; Vivante, Asaf ; et al.
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 36(12):4009-4012
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von Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas ; et al.
Molecular Psychiatry. 26(6):2013-2024
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von Maayan Kagan ; Rotem Semo-Oz ; Yishay Ben Moshe ; et al.
Frontiers in Genetics, Vol 13 (2023)
Schlagworte: exome sequencing (ES); general pediatrics; monogenic; hospitalized; inpatient; Genetics; QH426-470
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von Ulrike Hüffmeier ; Cornelia Kraus ; Miriam S. Reuter ; et al.
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Schlagworte: EIF3F gene; Neurodevelopmental disorder; Short stature; Deafness; Behavioral difficulties; Altered muscular tone; Medicine
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15
von Hsieh, Tzung-Chien ; Mensah, Martin A. ; Pantel, Jean T. ; et al.
In Genetics in Medicine December 2019 21(12):2807-2814
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von Odelia Chorin ; Yoel Hirsch ; Rachel Rock ; et al.
Frontiers in Genetics, Vol 13 (2022)
Schlagworte: EPG5; Vici syndrome; congenital cataract; agenesis of corpus callosum; global developmental delay; cardiomyopathy; Genetics; QH426-470
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von Weisz-Hubshman, M. ; Meirson, H. ; Michaelson-Cohen, R. ; et al.
In European Journal of Paediatric Neurology May 2019 23(3):418-426
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von Greenbaum, Lior ; Gilboa, Yinon ; Raas-Rothschild, Annick ; et al.
In European Journal of Medical Genetics March 2019 62(3):167-171
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von Regev, Miriam ; Pode-Shakked, Ben ; Jacobson, Jeffrey M. ; et al.
In European Journal of Medical Genetics January 2019 62(1):35-38
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von Aviva Eliyahu ; Ortal Barel ; Lior Greenbaum ; et al.
Frontiers in Pediatrics, Vol 10 (2022)
Schlagworte: KMT5B; intellectual disability; developmental delay; de novo; macrocephaly; Pediatrics; RJ1-570
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von Misko, Albert L. ; Wood, Levi B. ; DeBono, Madeline ; et al.
Neurology Genetics ; volume 8, issue 2 ; ISSN 2376-7839
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von Chorin, Odelia ; Shani, Hagit ; Moran, Gal ; et al.
Genetics in Medicine ; volume 24, issue 3, page S65 ; ISSN 1098-3600
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von Segal, Perri ; Pode-Shakked, Ben ; Raas-Rothschild, Annick
In European Journal of Medical Genetics June 2017 60(6):340-344
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von Gabis, Lidia V. ; Shefer, Shahar ; Raas-Rothschild, Annick
Journal of Molecular Neuroscience. 70(2):254-259
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von Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril ; et al.
ISSN: 1018-4813.
Schlagworte: Genetics research; Neurodevelopmental disorders; [SDV]Life Sciences [q-bio]; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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