Results 171 to 180 of about 178,713 (349)

Supplementary Tables S1-S8, Figures S1-S4 from Whole-Exome Sequencing Reveals Frequent Genetic Alterations in <i>BAP1</i>, <i>NF2</i>, <i>CDKN2A</i>, and <i>CUL1</i> in Malignant Pleural Mesothelioma

, 2023
Guangwu Guo, Juliann Chmielecki, Chandra Goparaju, Adriana Heguy, Igor Dolgalev, Michele Carbone, Sara Seepo, Matthew Meyerson, Harvey I. Pass   +8 more
openalex   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources

Supplemental Figure S1 from Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma

, 2023
Angela C. Hirbe, Sonika Dahiya, Christopher A. Miller, Tiandao Li, Robert S. Fulton, Xiaochun Zhang, Sandra McDonald, Katherine DeSchryver, Eric J. Duncavage, Jessica Walrath, Karlyne M. Reilly, Haley Abel, Melike Pekmezci, Arie Perry, Timothy J. Ley, David H. Gutmann   +15 more
openalex   +1 more source

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis, 2015
Hayato, Tada, Masa-Aki, Kawashiri, Masakazu, Yamagishi, Kenshi, Hayashi   +3 more
openaire   +3 more sources

Table S2 from Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach

, 2023
Zoe Guan, Colin B. Begg, Ronglai Shen
openalex   +1 more source

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

Epilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer‐Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian, Christine Haberler, Nicole Amberg   +16 more
wiley   +1 more source

Genome variation in colorectal cancer patient with liver metastasis measured by whole-exome sequencing [PDF]

, 2021
Hui Yi, Zhiwei Liao, Junjie Chen, Xinyu Shi, Guoliang Chen, Guanting Wu, Diyuan Zhou, Guoqiang Zhou, Jinyu Huang, Lian Lian, Zhengyuan Yu, Songbing He   +11 more
openalex   +1 more source

Clinical Images: Biopsy‐proven hydroxychloroquine‐induced cardiomyopathy in an adolescent with systemic lupus erythematosus

Arthritis &Rheumatology, EarlyView.
Greta Mastrangelo, Deborah M. Levy, Anita Nagy, Aamir Jeewa   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source