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LIG4 syndrome
Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
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DNA Ligase IV Syndrome; a Review Thomas Altmann1 and Andrew R
Genomic Analysis of Bone Marrow Failure and Myelodysplastic Syndromes Reveals Phenotypic and Diagnostic Complexity
Clinical and Immunological Diversity of Recombination Defects Hanna
Genomics of Inherited Bone Marrow Failure and Myelodysplasia Michael
Blueprint Genetics Primary Immunodeficiency Panel
Extreme Growth Failure Is a Common Presentation of Ligase IV Deficiency', Human Mutation
Primary Immunodeficiency Precision Panel Overview Indications
Ligase IV Immunodeficiency Due to Mutations in DNA a Severe Form Of
Microcephaly Information Sheet 6-13-19
Impaired Lymphocyte Development and Antibody Class Switching and Increased Malignancy in a Murine Model of DNA Ligase IV Syndrome
Blueprint Genetics Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel
Diseases Associated with Defective Responses to DNA Damage
A Novel Missense LIG4 Mutation in a Patient with a Phenotype Mimicking Behçet’S Disease
Mechanisms Conferring Sensitivity to Low Dose Radiation Exposure and Consideration of Potentially Sensitive Individuals
Bone Marrow Failure Gene Sequencing Panel
Immunsviktsykdommer
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Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky SCID and Represents a Model for Human LIG4 Syndrome
Two Hits in One: Whole Genome Sequencing Unveils LIG4 Syndrome
DNA Ligase IV Syndrome; a Review
Csa Can Induce DNA Double-Strand Breaks: Implications for BMT Regimens Particularly for Individuals with Defective DNA Repair
Differential DNA Damage Signaling Accounts for Distinct Neural Apoptotic Responses in ATLD and NBS
LIG4 Syndrome
The Clinical Impact of Deficiency in DNA Non-Homologous End
Impaired Lymphocyte Development and Antibody Class Switching And
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders
Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency
The Clinical Impact of Deficiency in DNA Non-Homologous End-Joining
Chromosome Breakage Disorders Gene Sequencing Panel
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky SCID and Represents a Model for Human LIG4 Syndrome
Prevalence and Incidence of Rare Diseases
Nijmegen Breakage Syndrome (NBS) Krystyna H Chrzanowska1*, Hanna Gregorek2,Bożenna Dembowska-Bagińska3, Maria a Kalina4 and Martin Digweed5
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's
PID Diagnostic Panel Versie V5 (500 Genen) Centrum Voor Medische Genetica Gent
Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe
Identification of Variants in Genes Associated with Single Gene