Results 191 to 200 of about 225,081 (303)

Exome Sequencing and Molecular Diagnosis [PDF]

Deutsches Ärzteblatt international, 2019
openaire   +2 more sources

Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study. [PDF]

Front Psychiatry
Saia F, Mirabella F, Longhitano A, Maugeri N, Barone R, Rizzo R.   +5 more
europepmc   +1 more source

TREM2 variants in Alzheimer\u27s disease [PDF]

, 2013
Benitez, Bruno, Cai, Yefei, Carrell, David, Cooper, Breanna, Cruchaga, Carlos, et al,, Goate, Alison, Morris, John C   +7 more
core   +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

Rapid recovery after intrathecal dexamethasone in FIRES

Epileptic Disorders, EarlyView.
João Filipe Nico, Ana Rita Fradique, Catarina Teixeira, Rita Moinho, Mariana Leitão Marques, Constança Santos, Joana Afonso Ribeiro, Filipe Palavra, Cristina Pereira   +8 more
wiley   +1 more source

Differences in tumor mutational burden assessment: a national ring trial. [PDF]

Acta Oncol
Federspiel Secher C, Westmose Yde C, Elmedal Laursen B, Høgdall E, Sylvain Thomsen H, Svenstrup Poulsen T, Sønderkær M, Kringelbach T, Malik Aagaard Jørgensen M, Frydendahl Sick Olsen R, Elaine Sørensen A, Baudet C, Gíslason MH, Knudsen M, Buhl IK.   +14 more
europepmc   +1 more source

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source