Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Published 2014 View Full Article
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Title
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Authors
Keywords
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Journal
ARCHIVES OF DISEASE IN CHILDHOOD
Volume 100, Issue 2, Pages 158-164
Publisher
BMJ
Online
2014-10-04
DOI
10.1136/archdischild-2013-305858
References
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Related references
Note: Only part of the references are listed.- Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
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- MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- (2013) P Makrythanasis et al. CLINICAL GENETICS
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
- (2012) S Banka et al. CLINICAL GENETICS
- Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
- (2012) N Bögershausen et al. CLINICAL GENETICS
- KDM6A Point Mutations Cause Kabuki Syndrome
- (2012) Noriko Miyake et al. HUMAN MUTATION
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
- (2011) Damien Lederer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
- (2011) Mark C. Hannibal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- (2011) Siddharth Banka et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A mutation screen in patients with Kabuki syndrome
- (2011) Yun Li et al. HUMAN GENETICS
- Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
- (2011) Lucia Micale et al. Orphanet Journal of Rare Diseases
- Seizures and EEG pattern in Kabuki syndrome
- (2010) Monica Lodi et al. BRAIN & DEVELOPMENT
- MLL2 mutation spectrum in 45 patients with Kabuki syndrome
- (2010) Aimée D. C. Paulussen et al. HUMAN MUTATION
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
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