Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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name

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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P1476

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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Alasdair G W Hunter

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Amanda C Smith

http://www.w3.org/2001/XMLSchema#string

Amy Kimball

http://www.w3.org/2001/XMLSchema#string

Angela E Scheuerle

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Anthony M Vandersteen

http://www.w3.org/2001/XMLSchema#string

Antonie D Kline

http://www.w3.org/2001/XMLSchema#string

Art Grix

http://www.w3.org/2001/XMLSchema#string

Care4Rare Canada Consortium

http://www.w3.org/2001/XMLSchema#string

Chantal F Morel

http://www.w3.org/2001/XMLSchema#string

Cindy Hudson

http://www.w3.org/2001/XMLSchema#string

P2860

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

Clinical application of exome sequencing in undiagnosed genetic conditions

Exome sequencing identifies the cause of a mendelian disorder

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

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148-154

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scholarly article

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10.1002/HUMU.22924

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http://www.w3.org/2001/XMLSchema#string

P478

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William B. Dobyns

Louise C. Pyle

Bitten Schönewolf-Greulich

Isabel Karen Temple

S M White

P577

2015-10-28T00:00:00Z

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283307447

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26507355

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microcephaly

Base de dados

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5512564

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

about

P2860

P2860

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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