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المؤلفون: Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
المصدر: Journal of Clinical Investigation. 133
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b9aaf6873ff9f8a3da531d0b5691706eTest
https://doi.org/10.1172/jci164575Test -
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المؤلفون: Julian E Alecu, Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi-Fakhari
المصدر: Human molecular genetics.
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0401dd38468536137ca35e2e6d8d70Test
https://pubmed.ncbi.nlm.nih.gov/35925862Test -
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المؤلفون: Darius Ebrahimi-Fakhari, Mustafa Sahin, Julian Teinert, Sean Dwyer, Ivy Pin-Fang Chen, Miriam Wimmer, Teresa Chen, Robert Behne, Angelica D'Amore, Elizabeth D. Buttermore
المصدر: Stem Cell Res
Stem Cell Research, Vol 53, Iss, Pp 102335-(2021)مصطلحات موضوعية: Heterozygote, QH301-705.5, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Cellular differentiation, Induced Pluripotent Stem Cells, Embryoid body, Article, medicine, Humans, Biology (General), Allele, Child, Induced pluripotent stem cell, biology, Spastic Paraplegia, Hereditary, Cerebral Palsy, Heterozygote advantage, Cell Biology, General Medicine, biology.organism_classification, medicine.disease, Sendai virus, Cancer research, Reprogramming, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c72333093b660b2cfa64e687c7f291aTest
https://doi.org/10.1016/j.scr.2021.102335Test -
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المؤلفون: Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)مصطلحات موضوعية: Male, TOR Serine-Threonine Kinases, lcsh:R, Infant, Newborn, lcsh:Medicine, Correction, Infant, General Medicine, Rhabdomyoma, Seizures, Tuberous Sclerosis, Child, Preschool, Germany, Humans, Pharmacology (medical), Female, Everolimus, Prospective Studies, Child, Spasms, Infantile, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3722d74b3bece07253333b2e9b90decTest
http://europepmc.org/articles/PMC6513511Test -
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المؤلفون: Jessie Zhang, Dirk Grimm, Lara Wahlster, Jennifer Werenbeck-Ueding, Fabian Bartz, Darius Ebrahimi-Fakhari, Susanne Theiss, Maria Praggastis, Daniel S. Ory, Brigitte Joggerst-Thomalla, Heiko Runz
المصدر: Human Molecular Genetics
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cell, Vesicular Transport Proteins, CHO Cells, Biology, Endoplasmic Reticulum, 03 medical and health sciences, chemistry.chemical_compound, Cricetulus, Niemann-Pick C1 Protein, hemic and lymphatic diseases, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Glycoproteins, Gene knockdown, Membrane Glycoproteins, Niemann–Pick disease, type C, Cholesterol, Endoplasmic reticulum, Intracellular Signaling Peptides and Proteins, Wild type, Membrane Proteins, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Articles, General Medicine, Fibroblasts, medicine.disease, nervous system diseases, Cell biology, 030104 developmental biology, medicine.anatomical_structure, chemistry, Gene Knockdown Techniques, Mutation, lipids (amino acids, peptides, and proteins), NPC1, Carrier Proteins, Lysosomes, Cholesterol storage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07cbe738977e277b6fc808ad58cadb2Test
https://doi.org/10.1093/hmg/ddw204Test