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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2024. (Total: 234175Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Deafness 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
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Cell death and differentiation 2019 3 26 (11): 2464-2478.
Aprile Davide, Fruscione Floriana, Baldassari Simona, Fadda Manuela, Ferrante Daniele, Falace Antonio, Buhler Emmanuelle, Sartorelli Jacopo, Represa Alfonso, Baldelli Pietro, Benfenati Fabio, Zara Federico, Fassio An
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539.
Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H
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