-
1دورية أكاديمية
المؤلفون: Lu, Wen-Li, Ma, Xiao-Yu, Zhang, Jiao, Wang, Jun-Qi, Zhang, Ting-Ting, Ye, Lei, Xiao, Yuan, Dong, Zhi-Ya, Wang, Wei, Sun, Shou-Yue, Li, Chuan-YinAff4, IDs12519023007391_cor11, Hu, Rong-GuiAff4, IDs12519023007391_cor12, Ning, GuangAff3, IDs12519023007391_cor13, Zhang, Li-DanAff1, IDs12519023007391_cor14
المصدر: World Journal of Pediatrics. 20(4):422-433
-
2رسالة جامعية
المؤلفون: Hernández Ruiz, Mª Isabel
المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Medicina
مرشدي الرسالة: Ruiz Laza, Agustín, Boada Rovira, Mercé, Blesa González, Rafael, Álvarez Sabín, J. (José)
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: DLFT, FTLD, Correlació fenotip-genotip, Correlación fenotipo-genotipo, Phenotype-genotype correlation, Factors genètics associats a DLFT, Factores genéticos asociados a DLFT, Genetics factors associated to FTLD, Ciències de la Salut
Time: 616.8
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/285735
-
3دورية أكاديمية
المؤلفون: Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
مصطلحات موضوعية: acid alpha‐glucosidase, GAA gene, metabolic myopathy, phenotype–genotype correlation, Pompe disease, pseudodeficiency allele, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
-
4دورية أكاديمية
المؤلفون: Szlepák, TamásAff1, Aff2, Kossev, Annabel P., Csabán, Dóra, Illés, Anett, Udvari, Szabolcs, Balicza, PéterAff1, Aff2, Borsos, Beáta, Takáts, Annamária, Klivényi, Péter, Molnár, Mária J.Aff1, Aff2, IDs1007202307213w_cor10
المصدر: Neurological Sciences. :1-9
-
5
المؤلفون: Areblom, Maria, Kjellström, Sten, Andréasson, Sten, Öhberg, Anders, Gränse, Lotta, Kjellström, Ulrika
المصدر: Genes. 14(7)
مصطلحات موضوعية: DNA analysis, inherited retinal dystrophy, next generation sequencing, phenotype–genotype correlation, re-analysis, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology
-
6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
7دورية أكاديمية
المؤلفون: Aguilar, Laura Ramirez, Acosta‐Uribe, Juliana, Giraldo, Margarita M, Moreno, Sonia, Baena, Ana, Alzate, Diana, Cuastumal, Rosario, Aguillón, David, Madrigal, Lucía, Saldarriaga, Amanda, Navarro, Alexander, Garcia, Gloria P, Aguirre‐Acevedo, Daniel C, Geier, Ethan G, Cochran, J Nicholas, Quiroz, Yakeel T, Myers, Richard M, Yokoyama, Jennifer S, Kosik, Kenneth S, Lopera, Francisco
المصدر: Alzheimer's & Dementia. 15(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Aging, Acquired Cognitive Impairment, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Neurodegenerative, Human Genome, Alzheimer's Disease, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Age of Onset, Alzheimer Disease, Colombia, Female, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Presenilin-1, Whole Genome Sequencing, Autosomal dominant Alzheimer's disease, Presenilin 1, Admixture in Latin America, Genetic Bottleneck, Phenotype genotype correlation, Founder effect, Genetic drift, Geriatrics, Clinical sciences, Biological psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5zf548rr
-
8دورية أكاديمية
المؤلفون: Özlem Akgün Doğan, Nihat Buğra Ağaoğlu
المصدر: Gülhane Tıp Dergisi, Vol 64, Iss 2, Pp 144-151 (2022)
مصطلحات موضوعية: bardet-biedl syndrome, next-generation sequencing, phenotype-genotype correlation, variants, Medicine
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: Maria Areblom, Sten Kjellström, Sten Andréasson, Anders Öhberg, Lotta Gränse, Ulrika Kjellström
المصدر: Genes, Vol 14, Iss 7, p 1413 (2023)
مصطلحات موضوعية: inherited retinal dystrophy, next generation sequencing, DNA analysis, phenotype–genotype correlation, re-analysis, Genetics, QH426-470
وصف الملف: electronic resource
-
10دورية أكاديمية
المؤلفون: Yang, Qian-Li, Zuo, Lei, Ma, Zhi-Ling, Lei, Chang-Hui, Zhu, Xiao-Li, Wang, Xuan-Ying, Wang, Bo, Zhao, Xue-Li, Zhang, Juan, Wang, Yue, Zhang, Yan-MinAff4, Liu, Li-WenAff1
المصدر: Heart and Vessels. 36(10):1525-1535