Results 111 to 120 of about 73,831 (171)

Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

, 2015
Rong Zhao, Yan Ruan, Xin Wang
openalex   +1 more source

Mutational profiles of spontaneous and radiation-related mammary carcinomas in a rat model of Brca1 haploinsufficiency. [PDF]

Sci Rep
Nakamura Y, Daino K, Ishikawa A, Kakinuma S, Nishimura-Yano Y, Nagata K, Takabatake M, Nishimura M, Mashimo T, Inoue K, Imaoka T.   +10 more
europepmc   +1 more source

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]

Cerebellum
Thomsen M, Borsche M, Yépez VA, Rasche D, Ullrich KK, Tadic V, Abdelwakeel SM, Busch H, Franzenburg S, Trinh J, Klein C, Lohmann K, Brüggemann N.   +12 more
europepmc   +1 more source

A Scoping Review on Genetic Mutations and Single-Nucleotide Polymorphisms Associated with Pectus Excavatum. [PDF]

J Multidiscip Healthc
Barman S, Momin L, Islam R, Shing MS, Ranjan R, Waterhouse B, Dunning J.   +6 more
europepmc   +1 more source

Case Report: Rare pheochromocytoma in a patient with Li-Fraumeni syndrome: a 3-event, 4-hit model of pathogenesis. [PDF]

Front Oncol
Liu Y, Dinerman A, Lee I, Xi L, Tyagi M, Nilubol N, Grossman A, Khincha PP, Aldape K, Calzone K, Pacak K, Raffeld M.   +11 more
europepmc   +1 more source

Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing. [PDF]

Genes (Basel)
Bejaoui Y, Al-Sarraj Y, Al-Hage J, Bitar FF, El Hajj N, Nemer G, Kurban M.   +6 more
europepmc   +1 more source

Detection of germline variants in human population chronically exposed to high level natural background radiation in Kerala coast. [PDF]

Genes Environ
Jain V, Saini D, Sabarinathan R, Das B.
europepmc   +1 more source

Cancer Genome Characterization with SNP Array and Whole-Exome Sequencing Analysis

, 2013
Alexis Ramos
openalex   +1 more source

WxS-QC - a quality control pipeline for human Whole-Genome and Whole Exome sequencing cohorts

Gennadii Zakharov, Ruth Y. Eberhardt, Alina Frolova, Dmytro Horyslavets, Eric Hidari, Iaroslav Popov, Joanna Dennehy, Mykhailo Koreshkov, Pavlos Antoniou, Valeriia Kantsypa, Vladimir Ovchinnikov, Vivek Iyer   +11 more
openalex   +1 more source

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy. [PDF]

Epilepsy Curr
Yano ST, Phitsanuwong C.
europepmc   +1 more source