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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 10, 2024. (Total: 232398Documents)
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Query Trace: Seizures and TBC1D24[original query]
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
PloS one 2015 10 (9): e0138072.
Bakhchane Amina, Charif Majida, Salime Sara, Boulouiz Redouane, Nahili Halima, Roky Rachida, Lenaers Guy, Barakat Abdelham
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
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