Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 20, 2024. (Total: 231655Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 3 (of 3 Records)

Query Trace: Intellectual Disability and DYNC1H1[original query]
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
PloS one 2017 8 12 (8): e0181791.
Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh
Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Pediatrics and neonatology 2018 Mar .
Wang Rongyue, Lei Tingying, Fu Fang, Li Ru, Jing Xiangyi, Yang Xin, Liu Juan, Li Dongzhi, Liao C
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Seizure 2020 6 80 145-152.
Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi
TOP