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Genitopatellar syndrome
KAT6A Syndrome: Genotype-Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants
Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants
Abstracts Books 2014
Genetic Basis of Human Congenital Heart Disease
Five New Cases of Syndromic Intellectual Disability Due to KAT6A Mutations: Widening the Molecular and Clinical Spectrum
Impact of Exome Sequencing in Characterizing Mendelian Disorders
(Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
KAT6B Gene Lysine Acetyltransferase 6B
Genetic Syndromes Caused by Mutations in Epigenetic Genes
A Rare Case of Genito-Patellar Syndrome (GPS) from Khartoum-Sudan
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Newborndxtm Advanced Sequencing Evaluation Disorders List
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: the First Genetically Confirmed Case in South Korea
Two De Novo Overlapping Interstitial Duplications at 10Q22 Associated with Speech Impairments, Behaviour Problems, Genital Anoma
Supplemental Information
Say-Barber-Biesecker Syndromev3
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Top View
KAT6B-Related Disorder in a Patient with a Novel Frameshift Variant (C
Short Reports Genitopatellar Syndrome: a New Condition Comprising Absent
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Prevalence and Incidence of Rare Diseases
Clinical and Molecular Cytogenetic Characterization of a Novel 10Q Interstitial Deletion: a Case Report and Review of the Literature John C
Genitopatellar Syndrome
Exome Sequencing Greatly Expedites the Progressive Research of Mendelian Diseases