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: Nov 8, 2024. (Total: 233355Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 1 (of 1 Records)

Query Trace: Mental Retardation and PDK1[original query]
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep .
Mucha Bettina E, Banka Siddharth, Ajeawung Norbert Fonya, Molidperee Sirinart, Chen Gary G, Koenig Mary Kay, Adejumo Rhamat B, Till Marianne, Harbord Michael, Perrier Renee, Lemyre Emmanuelle, Boucher Renee-Myriam, Skotko Brian G, Waxler Jessica L, Thomas Mary Ann, Hodge Jennelle C, Gecz Jozef, Nicholl Jillian, McGregor Lesley, Linden Tobias, Sisodiya Sanjay M, Sanlaville Damien, Cheung Sau W, Ernst Carl, Campeau Philippe
TOP