4.2 Article

Two Novel EIF2S3 Mutations Associated with Syndromic Intellectual Disability with Severe Microcephaly, Growth Retardation, and Epilepsy

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H. Hu et al.

MOLECULAR PSYCHIATRY (2016)

Article Genetics & Heredity

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemistry & Molecular Biology

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog et al.

ORPHANET JOURNAL OF RARE DISEASES (2015)

Article Genetics & Heredity

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

Amelie Piton et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

Nir Oksenberg et al.

PLOS GENETICS (2013)

Review Genetics & Heredity

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

Herbert A. Lubs et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemical Research Methods

Phosphorylation of Human Eukaryotic Initiation Factor 2γ: Novel Site Identification and Targeted PKC Involvement

Armann Andaya et al.

JOURNAL OF PROTEOME RESEARCH (2011)

Article Biochemistry & Molecular Biology

Las1L Is a Nucleolar Protein Required for Cell Proliferation and Ribosome Biogenesis

Christopher D. Castle et al.

MOLECULAR AND CELLULAR BIOLOGY (2010)

Article Genetics & Heredity

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick S. Tarpey et al.

NATURE GENETICS (2009)

Article Multidisciplinary Sciences

Structure of an archaeal heterotrimeric initiation factor 2 reveals a nucleotide state between the GTP and the GDP states

Laure Yatime et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Biochemistry & Molecular Biology

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism

S. M. Klauck et al.

MOLECULAR PSYCHIATRY (2006)

Review Genetics & Heredity

X-linked mental retardation

HH Ropers et al.

NATURE REVIEWS GENETICS (2005)