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: Dec 8, 2023. (Total: 223870Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 4 (of 4 Records)

Query Trace: Lissencephaly and ACTG1[original query]
Rare ACTG1 variants in fetal microlissencephaly.
European journal of medical genetics 2015 Aug 58 (8): 416-8.
Poirier Karine, Martinovic Jelena, Laquerrière Annie, Cavallin Mara, Fallet-Bianco Catherine, Desguerre Isabelle, Valence Stephanie, Grande-Goburghun Jocelyne, Francannet Christine, Deleuze Jean-François, Boland Anne, Chelly Jamel, Bahi-Buisson Nad
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
American journal of medical genetics. Part A 2016 May .
Di Donato Nataliya, Kuechler Alma, Velgano Samantha, Heinritz Wolfram, Bodurtha Joann, Merchant Sabiha R, Breningstall Galen, Ladda Roger, Sell Susan, Altmüller Janine, Bögershausen Nina, Timms Andrew E, Hackmann Karl, Schrock Evelin, Collins Sarah, Olds Carissa, Rump Andreas, Dobyns William
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr .
Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William
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