Results 261 to 270 of about 183,311 (355)

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

, 2016
Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart Johansson, Anthonie van Essen, Johanna B. G. M. Verheij, Hermine Veenstra-Knol, E. Redeker, Marcel Mannens, Morris Swertz, Behrooz Alizadeh, Conny van Ravenswaaij-Arts, Richard J. Sinke, Birgit Sikkema-Raddatz   +13 more
openalex   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study. [PDF]

Int J Clin Pediatr Dent
Grace M, Aarthi J, Elangovan A, Chenchugopal M, Gopalakrishnan S.   +4 more
europepmc   +1 more source

Whole-exome sequencing for clinical diagnostics [PDF]

Nature Reviews Genetics, 2016
openaire   +1 more source

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Whole Exome Sequencing in Monogenic Dyslipidemias.

Whole Exome Sequencing in Monogenic Dyslipidemias.
出版者照会後に全文公開
openaire  

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]

Case Rep Hematol
Upadhaya P, Shrestha A.
europepmc   +1 more source

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

, 2017
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya KUSHIDA, Takashi Ishikura, Tomoyuki Harada, James Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama   +15 more
openalex   +2 more sources