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Advances in Experimental Medicine and Biology|January 17, 2025
Molecular Basis of Breast Tumor HeterogeneityEsra Dikoglu, Fresia Pareja
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
NPJ Breast Cancer|October 2, 2025
Predictors of response to neoadjuvant chemo-immunotherapy in metaplastic triple-negative breast cancerNour Abuhadra, Fresia Pareja, Charlie White, et al.
Annals of Neurology|May 1, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thriveMaha S Zaki, Gifty Bhat, Tipu Sultan, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|June 11, 2016
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypesOlca Basturk, Marcus Tan, Umesh Bhanot, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2019
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinomaKazimierz O Wrzeszczynski, Sadia Rahman, Mayu O Frank, et al.
Scientific Reports|November 25, 2015
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasiaBeryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, et al.
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