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1دورية أكاديمية
المؤلفون: Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth Wohler, P. Dane Witmer, Nara Sobreira, Sadaf Naz
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Shafique, Anum, Nadeem, Ayesha, Aslam, Faiza, Manzoor, Humera, Noman, MuhammadAff1, Aff3, Wohler, Elizabeth, Witmer, P. Dane, Sobreira, Nara, Naz, SadafAff1, IDs41598024649228_cor9
المصدر: Scientific Reports. 14(1)
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3دورية أكاديمية
المؤلفون: Szczałuba, Krzysztof, Mierzewska, Hanna, Śmigiel, Robert, Kosińska, Joanna, Koppolu, AgnieszkaAff1, Aff4, Biernacka, AnnaAff1, Aff4, Stawiński, PiotrAff1, Aff5, Pollak, Agnieszka, Rydzanicz, Małgorzata, Płoski, RafałAff1
المصدر: Journal of Applied Genetics. 61(2):213-218
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4دورية أكاديمية
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5
المؤلفون: Piotr Stawiński, Małgorzata Rydzanicz, Rafał Płoski, Anna Biernacka, Robert Śmigiel, Agnieszka Pollak, Hanna Mierzewska, Agnieszka Koppolu, Krzysztof Szczałuba, Joanna Kosińska
المصدر: Journal of Applied Genetics
مصطلحات موضوعية: Exome sequencing, Male, 0301 basic medicine, Microcephaly, Adolescent, Hereditary spastic paraplegia, Adaptor Protein Complex 4, 030105 genetics & heredity, Biology, AP4B1, 03 medical and health sciences, Epilepsy, Human Genetics • Original Paper, Neurodevelopmental disorder, Intellectual Disability, Genetics, medicine, Spastic, Humans, Adaptor Protein Complex beta Subunits, Genetic Predisposition to Disease, Global developmental delay, Child, Spastic Paraplegia, Hereditary, Homozygote, Genetic Variation, Infant, General Medicine, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, medicine.symptom
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6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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7دورية أكاديمية
المؤلفون: Bauer, Peter, Leshinsky-Silver, Esther, Blumkin, Lubov, Schlipf, Nina, Schröder, Christopher, Schicks, Julia, Lev, Dorit, Riess, Olaf, Lerman-Sagie, Tally, Schöls, Ludger
المصدر: neurogenetics. February 2012 13(1):73-76
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8
المؤلفون: James Drew, Josef T. Kittler, Sharon A. Tooze, Ian J White, Guillermo López-Doménech, Davor Ivankovic, Flavie Lesept
المصدر: Autophagy
مصطلحات موضوعية: 0301 basic medicine, Model organisms, reticulophagy, SPG47, ER-phagy, mAtg9, Autophagosome maturation, Adaptor Protein Complex 4, Cell, Reticulophagy, Vesicular Transport Proteins, Autophagy-Related Proteins, Biology, Endoplasmic Reticulum, AP4B1, Biochemistry & Proteomics, Imaging, 03 medical and health sciences, swelling, Signalling & Oncogenes, varicosities, medicine, Animals, SPG51, Molecular Biology, AP4S1, Mice, Knockout, Chemical Biology & High Throughput, 030102 biochemistry & molecular biology, Vesicle, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Autophagy, Sorting, Autophagosomes, AP4M1, Signal transducing adaptor protein, Membrane Proteins, Syndrome, Cell Biology, Transmembrane protein, Axons, Cell biology, AP4E1, Mice, Inbred C57BL, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, trans-Golgi Network, Research Paper
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88e42812a2bd05df9c51f46ab2fbd02
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10
المصدر: Journal of human genetics
مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Adult, Male, Exome sequencing, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Locus (genetics), 030105 genetics & heredity, AP4B1, Article, 03 medical and health sciences, Genetic Heterogeneity, Young Adult, PLP1, Genetics, Spastic, Medicine, Humans, Spasticity, Child, Myelin Proteolipid Protein, Genetics (clinical), Alleles, business.industry, Genetic heterogeneity, Spastic Paraplegia, Hereditary, AP4M1, Infant, medicine.disease, musculoskeletal system, nervous system diseases, Pedigree, body regions, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Allelic heterogeneity, Female, medicine.symptom, business, Paraplegia