Literature DB >> 29176366

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.

Engin Atli1, Hakan Gurkan1, Selma Ulusal1, Yasemin Karal2, Emine I Atli1, Hilmi Tozkir1.   

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Year:  2018        PMID： 29176366     DOI： 10.1097/MCD.0000000000000204

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

Review 1.  Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Authors:  Xue Gao; Pu Dai; Yong-Yi Yuan
Journal:  Hum Genet       Date:  2021-07-07       Impact factor: 4.132

2.  Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.

Authors:  Jingjing Li; Ruihong Liu; Huiyu Feng; Jian Zhang; Dilong Wang; Yiming Wang; Jinsheng Zeng; Yuhua Fan
Journal:  Front Neurol       Date:  2018-07-31       Impact factor: 4.003

3.  Crystal structure of the TLDc domain of human NCOA7-AS.

Authors:  Mary Arnaud-Arnould; Marine Tauziet; Olivier Moncorgé; Caroline Goujon; Mickaël Blaise
Journal:  Acta Crystallogr F Struct Biol Commun       Date:  2021-07-28       Impact factor: 1.056
  3 in total

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