Artículos de revistas sobre el tema "Causative variants"
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Pareja, Fresia, Ryan N. Ptashkin, David N. Brown, Fatemeh Derakhshan, Pier Selenica, Edaise M. da Silva, Andrea M. Gazzo et al. "Cancer-Causative Mutations Occurring in Early Embryogenesis". Cancer Discovery 12, n.º 4 (23 de diciembre de 2021): 949–57. http://dx.doi.org/10.1158/2159-8290.cd-21-1110.
Texto completoShakil, Muhammad, Abida Akbar, Nazish Mahmood Aisha, Intzar Hussain, Muhammad Ikram Ullah, Muhammad Atif, Haiba Kaul et al. "Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families". Genes 13, n.º 3 (12 de marzo de 2022): 503. http://dx.doi.org/10.3390/genes13030503.
Texto completoThanikachalam, Saradadevi, Elizabeth Hodapp, Ta C. Chang, Dayna Morel Swols, Filiz B. Cengiz, Shengru Guo, Mohammad F. Zafeer et al. "Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida". Genes 11, n.º 4 (26 de marzo de 2020): 350. http://dx.doi.org/10.3390/genes11040350.
Texto completoBengani, Hemant, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R. Louros, Jilly Hope, Adam Jackson et al. "Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability". PLOS ONE 16, n.º 8 (13 de agosto de 2021): e0256181. http://dx.doi.org/10.1371/journal.pone.0256181.
Texto completoWuyun, Saina. "Causative alternation in Zuo Tradition". Language and Linguistics / 語言暨語言學 25, n.º 1 (2 de enero de 2024): 123–61. http://dx.doi.org/10.1075/lali.00151.wuy.
Texto completoDi Taranto, Maria Donata y Giuliana Fortunato. "Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis". International Journal of Molecular Sciences 24, n.º 4 (6 de febrero de 2023): 3224. http://dx.doi.org/10.3390/ijms24043224.
Texto completoThongnak, Chuphong, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert y Chonlaphat Sukasem. "Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder". International Journal of Genomics 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/8231547.
Texto completoMoyon, Lambert, Camille Berthelot, Alexandra Louis, Nga Thi Thuy Nguyen y Hugues Roest Crollius. "Classification of non-coding variants with high pathogenic impact". PLOS Genetics 18, n.º 4 (29 de abril de 2022): e1010191. http://dx.doi.org/10.1371/journal.pgen.1010191.
Texto completoThomas, Laurent F., Takaya Saito y Pål Sætrom. "Inferring causative variants in microRNA target sites". Nucleic Acids Research 39, n.º 16 (21 de junio de 2011): e109-e109. http://dx.doi.org/10.1093/nar/gkr414.
Texto completoBoudellioua, Imane, Rozaimi B. Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B. Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V. Gkoutos, Paul N. Schofield y Robert Hoehndorf. "Semantic prioritization of novel causative genomic variants". PLOS Computational Biology 13, n.º 4 (17 de abril de 2017): e1005500. http://dx.doi.org/10.1371/journal.pcbi.1005500.
Texto completoAbdelkader, Ehab, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty y Patrik Schatz. "Novel causative variants in patients with achromatopsia". Ophthalmic Genetics 39, n.º 6 (5 de octubre de 2018): 678–83. http://dx.doi.org/10.1080/13816810.2018.1522653.
Texto completoMonasky, Michelle M., Emanuele Micaglio, Giuseppe Ciconte y Carlo Pappone. "Brugada Syndrome: Oligogenic or Mendelian Disease?" International Journal of Molecular Sciences 21, n.º 5 (1 de marzo de 2020): 1687. http://dx.doi.org/10.3390/ijms21051687.
Texto completoShchagina, Olga, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov y Elena Dadali. "Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy". International Journal of Molecular Sciences 24, n.º 12 (6 de junio de 2023): 9786. http://dx.doi.org/10.3390/ijms24129786.
Texto completoMyasnikov, Roman P., Olga V. Kulikova, Alexey N. Meshkov, Anna A. Bukaeva, Anna V. Kiseleva, Alexandra I. Ershova, Anna V. Petukhova et al. "A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy". Genes 13, n.º 10 (28 de septiembre de 2022): 1750. http://dx.doi.org/10.3390/genes13101750.
Texto completoBiswas, Pooja, Adda L. Villanueva, Angel Soto-Hermida, Jacque L. Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov et al. "Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis". PLOS Genetics 17, n.º 10 (18 de octubre de 2021): e1009848. http://dx.doi.org/10.1371/journal.pgen.1009848.
Texto completoLourenco, Daniela, Shogo Tsuruta, Sungbong Jang, Breno O. Fragomeni y Ignacy Misztal. "41 Using Sequence Data to Increase Accuracy of Genomic Predictions in Livestock: Are We There Yet?" Journal of Animal Science 99, Supplement_3 (8 de octubre de 2021): 22–23. http://dx.doi.org/10.1093/jas/skab235.037.
Texto completoAkouchekian, Mansoureh, Mitra Hakim Shooshtari, Hamed Heidary, Fateme Zahedi Abghari y Parisa Moeinian. "The causative variants of amyloidosis in the autism". International Journal of Neuroscience 129, n.º 1 (5 de noviembre de 2018): 10–15. http://dx.doi.org/10.1080/00207454.2018.1503177.
Texto completoMatczyńska, Ewa, Robert Szymańczak, Katarzyna Stradomska, Przemysław Łyszkiewicz, Maria Jędrzejowska, Karolina Kamińska, Marta Beć-Gajowniczek et al. "Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population". Genes 15, n.º 8 (1 de agosto de 2024): 1011. http://dx.doi.org/10.3390/genes15081011.
Texto completoLetko, Anna, Fabienne Leuthard, Vidhya Jagannathan, Daniele Corlazzoli, Kaspar Matiasek, Daniela Schweizer, Marjo K. Hytönen, Hannes Lohi, Tosso Leeb y Cord Drögemüller. "Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs". Genes 11, n.º 2 (4 de febrero de 2020): 163. http://dx.doi.org/10.3390/genes11020163.
Texto completoMajeres, Leif E., Anna C. Dilger, Daniel W. Shike, Joshua C. McCann y Jonathan E. Beever. "Defining a Haplotype Encompassing the LCORL-NCAPG Locus Associated with Increased Lean Growth in Beef Cattle". Genes 15, n.º 5 (30 de abril de 2024): 576. http://dx.doi.org/10.3390/genes15050576.
Texto completoNiitsuma, Sou, Hiroki Kudo, Atsuo Kikuchi, Takaya Hayashi, Satoshi Kumakura, Shuhei Kobayashi, Yuko Okuyama et al. "Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome". International Immunology 32, n.º 4 (24 de diciembre de 2019): 283–92. http://dx.doi.org/10.1093/intimm/dxz081.
Texto completoBernal Barquero, Carlos Eduardo, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú et al. "Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect". International Journal of Molecular Sciences 23, n.º 16 (17 de agosto de 2022): 9251. http://dx.doi.org/10.3390/ijms23169251.
Texto completoChan, Jacqueline, Jolyon Holdstock, John Shovelton, James Reid, Graham Speight, Duarte Molha, Venu Pullabhatla et al. "Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies". PLOS ONE 19, n.º 6 (13 de junio de 2024): e0305422. http://dx.doi.org/10.1371/journal.pone.0305422.
Texto completoAbu-Rub, Lubna I., Tara Al-Barazenji, Sumaya Abiib, Ayat S. Hammad, Alaa Abbas, Khalid Hussain y Mashael Al-Shafai. "Identification of KSR2 Variants in Pediatric Patients with Severe Early-Onset Obesity from Qatar". Genes 15, n.º 8 (23 de julio de 2024): 966. http://dx.doi.org/10.3390/genes15080966.
Texto completoRasia, Maria Eugenia Mangialavori. "Stativity in the Causative Alternation? New Questions and a New Variant". Open Linguistics 5, n.º 1 (31 de diciembre de 2019): 233–59. http://dx.doi.org/10.1515/opli-2019-0014.
Texto completoTakao, Akinari, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Hideki Ishikawa, Kiwamu Akagi y Hideyuki Ishida. "Genetic testing of Japanese patients with serrated polyposis syndrome: A multicentric study." Journal of Clinical Oncology 42, n.º 3_suppl (20 de enero de 2024): 75. http://dx.doi.org/10.1200/jco.2024.42.3_suppl.75.
Texto completoSiutkina, Nadezhda P. y Svetlana V. Shustova. "COGNITIVE SCENARIO OF CAUSATIVE VERB "REIZEN" IN THE GERMAN LANGUAGE: ON THE ISSUE OF SEMANTIC POTENTIAL EXPANSION". Theoretical and Applied Linguistics, n.º 1 (2018): 84–91. http://dx.doi.org/10.22250/2410-7190_2018_4_1_84_91.
Texto completoNaruse, Hiroya, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi et al. "Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS". Journal of Neurology, Neurosurgery & Psychiatry 90, n.º 5 (24 de octubre de 2018): 537–42. http://dx.doi.org/10.1136/jnnp-2018-318568.
Texto completoSavelyev, V. N., I. V. Savelyeva, B. V. Babenyshev y A. N. Kulichenko. "The evolution of the pathogen and the clinical and epidemiological features of the recent cholera (el tor)". Epidemiology and Infectious Diseases 17, n.º 5 (15 de octubre de 2012): 31–35. http://dx.doi.org/10.17816/eid40707.
Texto completoZhang, Lujia, Ya Li, Litao Qin, Yu Wu y Bo Lei. "Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population". Genes 12, n.º 4 (7 de abril de 2021): 537. http://dx.doi.org/10.3390/genes12040537.
Texto completoAlesi, Viola, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso et al. "Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis". International Journal of Molecular Sciences 22, n.º 2 (13 de enero de 2021): 750. http://dx.doi.org/10.3390/ijms22020750.
Texto completoSchlingmann, Karl P., François Jouret, Kuang Shen, Anukrati Nigam, Francisco J. Arjona, Claudia Dafinger, Pascal Houillier et al. "mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy". Journal of the American Society of Nephrology 32, n.º 11 (4 de octubre de 2021): 2885–99. http://dx.doi.org/10.1681/asn.2021030333.
Texto completoSuzuki, Yasuo, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito y Kaoru Dohi. "Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients". Genes 14, n.º 2 (9 de febrero de 2023): 443. http://dx.doi.org/10.3390/genes14020443.
Texto completoKOCAAĞA, Ayça y Hatice Mine ÇAKMAK. "Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience". Medical Journal of Western Black Sea 6, n.º 3 (27 de diciembre de 2022): 296–301. http://dx.doi.org/10.29058/mjwbs.1200958.
Texto completoFragomeni, B. D., D. A. L. Lourenco, Y. Masuda, A. Legarra y I. Misztal. "193 Including causative variants into single step genomic BLUP". Journal of Animal Science 95, suppl_4 (1 de agosto de 2017): 95–96. http://dx.doi.org/10.2527/asasann.2017.193.
Texto completoWozniak, G., Y. Shen, A. Rubin, P. Neela y P. Khavari. "397 Uncovering causative, noncoding genetic variants in cutaneous diseases". Journal of Investigative Dermatology 139, n.º 5 (mayo de 2019): S68. http://dx.doi.org/10.1016/j.jid.2019.03.473.
Texto completoXrakovskij, Viktor S. y Ramazan G. Mamedshakhov. "Causative construction and its variants in Modern Standard Arabic". Orientalistica 7, n.º 1 (2024): 226–40. http://dx.doi.org/10.31696/2618-7043-2024-7-1-226-240.
Texto completoGuo, Jing, Owen J. L. Rackham, Niina Sandholm, Bing He, Anne-May Österholm, Erkka Valo, Valma Harjutsalo et al. "Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy". Journal of the American Society of Nephrology 31, n.º 2 (9 de enero de 2020): 309–23. http://dx.doi.org/10.1681/asn.2019030289.
Texto completoDianat, Tahereh, Dor Mohammad Kordi Tamandani, Maryam Najafi y Ali Khajeh. "Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia". Disease and Diagnosis 11, n.º 4 (1 de octubre de 2022): 142–46. http://dx.doi.org/10.34172/ddj.2022.27.
Texto completoMajeres, Leif E., Anna C. Dilger, Daniel W. Shike, Joshua C. McCann y Jon E. Beever. "PSV-8 Investigation of a haplotype and eQTL analysis of the LCORL-NCAPG locus associated with increased lean growth in beef cattle". Journal of Animal Science 102, Supplement_3 (1 de septiembre de 2024): 512. http://dx.doi.org/10.1093/jas/skae234.580.
Texto completoArakawa, Hiroshi. "The Natural Evolution of RNA Viruses Provides Important Clues about the Origin of SARS-CoV-2 Variants". SynBio 2, n.º 3 (16 de agosto de 2024): 285–97. http://dx.doi.org/10.3390/synbio2030017.
Texto completoJohnsson, Martin y Melissa K. Jungnickel. "Evidence for and localization of proposed causative variants in cattle and pig genomes". Genetics Selection Evolution 53, n.º 1 (30 de agosto de 2021). http://dx.doi.org/10.1186/s12711-021-00662-x.
Texto completoInoue, Michio, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino y Satoru Noguchi. "Causative variant profile of collagen VI-related dystrophy in Japan". Orphanet Journal of Rare Diseases 16, n.º 1 (24 de junio de 2021). http://dx.doi.org/10.1186/s13023-021-01921-2.
Texto completoBrabbing‐Goldstein, Dana, Lily Bazak, Noa Ruhrman‐Shahar, Gabriel Arie Lidzbarsky, Naama Orenstein, Marina Lifshiz‐Kalis, Nurit Asia‐Batzir, Yael Goldberg y Lina Basel‐Salmon. "Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort". Prenatal Diagnosis, 5 de septiembre de 2024. http://dx.doi.org/10.1002/pd.6659.
Texto completoSeo, Yuri, Tae Young Kim, Dongju Won, Saeam Shin, Jong Rak Choi, Seung-Tae Lee, Byung Joo Lee, Hyun Taek Lim, Sueng-Han Han y Jinu Han. "Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy". Frontiers in Neurology 13 (22 de agosto de 2022). http://dx.doi.org/10.3389/fneur.2022.978532.
Texto completoStutterd, Chloe A., Stefanie Brock, Katrien Stouffs, Miriam Fanjul-Fernandez, Paul J. Lockhart, George McGillivray, Simone Mandelstam et al. "Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing". Brain Communications, 26 de diciembre de 2020. http://dx.doi.org/10.1093/braincomms/fcaa221.
Texto completoHori, Mika, Atsushi Takahashi, Kiminori Hosoda, Masatsune Ogura y Mariko Harada-Shiba. "A low-frequency APOB p.(Pro955Ser) variant contributes to the severity of/variability in familial hypercholesterolemia". Journal of Clinical Endocrinology & Metabolism, 3 de octubre de 2022. http://dx.doi.org/10.1210/clinem/dgac572.
Texto completoEghbali, Maryam, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee y Mohammad Hossein Modarressi. "Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome". Frontiers in Genetics 11 (11 de enero de 2021). http://dx.doi.org/10.3389/fgene.2020.601566.
Texto completoShinya, Y., T. Hiraide, M. Kataoka, M. Momoi, S. Goto, Y. Katsumata, J. Endo, M. Sano, K. Kosaki y K. Fukuda. "A novel causative gene variant, TNFRSF13B p.Gly76Ser, in patients with pulmonary arterial hypertension". European Heart Journal 41, Supplement_2 (1 de noviembre de 2020). http://dx.doi.org/10.1093/ehjci/ehaa946.2310.
Texto completoToyoda, Yu, Yusuke Kawamura, Akiyoshi Nakayama, Hirofumi Nakaoka, Toshihide Higashino, Seiko Shimizu, Hiroshi Ooyama et al. "Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12". Rheumatology, 2 de abril de 2021. http://dx.doi.org/10.1093/rheumatology/keab327.
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