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One or more keywords matched the following items that are connected to Sullivan, Kathleen
Item TypeName
Concept Chromosome Deletion
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 22
Concept Chromosome Breakage
Concept Chromosome Disorders
Academic Article Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.
Academic Article The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Academic Article Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.
Academic Article Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease.
Academic Article Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.
Academic Article DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.
Academic Article Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
Academic Article Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Academic Article Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.
Academic Article CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Academic Article Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).
Academic Article Safety of L-proline as a stabilizer for immunoglobulin products.
Academic Article The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).
Academic Article Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Academic Article Terminal deletion of 11q with significant late-onset combined immune deficiency.
Academic Article Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Academic Article B cell development in chromosome 22q11.2 deletion syndrome.
Academic Article Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.
Academic Article Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Academic Article Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
Academic Article The immune deficiency of chromosome 22q11.2 deletion syndrome.
Academic Article Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Academic Article What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Academic Article Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Academic Article Immune Biomarkers of Autoimmunity in Chromosome 22q11.2 Deletion Syndrome.
Academic Article Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study.
Academic Article Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
Academic Article Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Academic Article Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Academic Article 22q11.2 Deletion and Duplication Syndromes and COVID-19.
Academic Article Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Search Criteria
  • Chromosomes Human Pair 6
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