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1دورية أكاديمية
المؤلفون: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
المصدر: HGG Advances, Vol 3, Iss 4, Pp 100122- (2022)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000380Test; https://doaj.org/toc/2666-2477Test
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2دورية أكاديمية
المؤلفون: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
المصدر: HGG Advances, Vol 2, Iss 2, Pp 100024- (2021)
مصطلحات موضوعية: Activating Signal Cointegrator 1 Complex, Subunit 3, ASCC3, neurogenetics, neuromuscular, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000051Test; https://doaj.org/toc/2666-2477Test
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المؤلفون: Jennifer Pasquier, Gaber Bergant, Divya Nair, Margaret Harr, Hans-Hilger Ropers, Arthur Jacob, Andrew Yoon, Parul Jayakar, Sandra Jansen, Rafii Arash, Kimia Kahrizi, Elizabeth J. Bhoj, Emanuele Agolini, Hannah Erdogan, Dong Li, Borut Peterlin, Alpa Sidhu, Maruša Škrjanec Pušenjak, Rolph Pfundt, Sheila Saliganan, Hossein Najmabadi, Kirsty McWalter
المصدر: HGG Advances, Vol 2, Iss 2, Pp 100024-(2021)
Human Genetics and Genomics Advancesمصطلحات موضوعية: Genetics, DNA damage, Neurogenetics, Spinal muscular atrophy, Biology, QH426-470, medicine.disease, Compound heterozygosity, Phenotype, Activating signal cointegrator 1 complex, Activating Signal Cointegrator 1 Complex, ASCC3, Report, Genotype, medicine, Molecular Medicine, Missense mutation, Subunit 3, neuromuscular, neurogenetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26c092db9ac37324c98869f701bb630Test
http://www.sciencedirect.com/science/article/pii/S2666247721000051Test -
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المؤلفون: Sheila Saliganan, Joanna Lee, Sainan Wei
المصدر: Clinical Case Reports
مصطلحات موضوعية: ring syndrome, 0301 basic medicine, Microcephaly, medicine.medical_specialty, dwarfism, growth retardation, Case Report, Case Reports, Biology, Ring (chemistry), ring 1 chromosome, cytogenetics, 03 medical and health sciences, Chromosome (genetic algorithm), medicine, microcephaly, chromosome 1, Genetics, Cytogenetics, General Medicine, Microdeletion syndrome, medicine.disease, 1q43q44 deletion, 030104 developmental biology, intellectual disability, array comparative genomic hybridization, Chromosome 21, Comparative genomic hybridization, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::292fbef107c85fd95d98ddd4af26e42aTest
https://doi.org/10.1002/ccr3.522Test -
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المؤلفون: Alejandro Iglesias, Leandra Folk, Yufeng Shen, Jane Juusola, Wendy K. Chung, Luis Rohena, Anne H. O’Donnell-Luria, Jennifer B. Humberson, Alpa Sidhu, Patrik Vitazka, Sheila Saliganan, Linshan Shang, Kyle Retterer, Megan T. Cho
المصدر: neurogenetics. 16:307-314
مصطلحات موضوعية: Male, Adolescent, Developmental Disabilities, Biology, Bioinformatics, Short stature, Cellular and Molecular Neuroscience, Intellectual Disability, Genetics, medicine, Humans, Attention deficit hyperactivity disorder, Exome, Child, Genetics (clinical), Loss function, Exome sequencing, Zinc finger, medicine.disease, Human genetics, Mutation, Etiology, Autism, Female, medicine.symptom, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8af2a0dabd17f08e61142c469888e4Test
https://doi.org/10.1007/s10048-015-0454-0Test