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Hypoparathyroidism and central diabetes insipidus: in search of the link.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1731, doi. 10.1007/s00431-014-2448-6
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- Article
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8200, doi. 10.3390/ijms21218200
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- Article
Trough Concentrations of Specific Antibodies in Primary Immunodeficiency Patients Receiving Intravenous Immunoglobulin Replacement Therapy.
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- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 592, doi. 10.3390/jcm10040592
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- Article
Clinical characteristics of children with 2009 pandemic H1N1 influenza virus infections.
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- Pediatrics International, 2011, v. 53, n. 4, p. 426, doi. 10.1111/j.1442-200X.2010.03271.x
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- Article
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1041315
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- Article
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.886117
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- Article
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.
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- European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1997, doi. 10.1007/s00431-022-04397-9
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- Article
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
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- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0349-y
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- Article
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1301, doi. 10.1002/ajmg.a.38175
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- Article
Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype-Phenotype Correlation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3214, doi. 10.1002/ajmg.a.37367
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- Article
Survival of the fetus: fetal B and T cell receptor repertoire development.
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- Seminars in Immunopathology, 2017, v. 39, n. 6, p. 577, doi. 10.1007/s00281-017-0626-0
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- Article
Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2.
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- British Journal of Haematology, 2024, v. 204, n. 3, p. 1067, doi. 10.1111/bjh.19215
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- Article
Correlation between ' ACKR1/ DARC null' polymorphism and benign neutropenia in Yemenite Jews.
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- British Journal of Haematology, 2015, v. 170, n. 6, p. 892, doi. 10.1111/bjh.13345
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- Article
B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.
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- Immunologic Research, 2022, v. 70, n. 2, p. 216, doi. 10.1007/s12026-022-09263-2
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- Article
Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.
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- Immunologic Research, 2021, v. 69, n. 2, p. 145, doi. 10.1007/s12026-021-09179-3
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- Article
A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.
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- Immunologic Research, 2021, v. 69, n. 1, p. 100, doi. 10.1007/s12026-021-09172-w
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- Article
Immune reconstitution after HSCT in SCID—a cohort of conditioned and unconditioned patients.
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- Immunologic Research, 2019, v. 67, n. 2/3, p. 166, doi. 10.1007/s12026-019-09081-z
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- Article
MHC II deficient infant identified by newborn screening program for SCID.
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- Immunologic Research, 2018, v. 66, n. 4, p. 537, doi. 10.1007/s12026-018-9019-2
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- Article
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency.
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- Immunologic Research, 2018, v. 66, n. 3, p. 437, doi. 10.1007/s12026-018-9007-6
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- Article
Reversible airway obstruction in children with ataxia telangiectasia.
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- Pediatric Pulmonology, 2010, v. 45, n. 3, p. 230, doi. 10.1002/ppul.21095
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- Article
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
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- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01448
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- Publication type:
- Article
Post-childhood Presentation and Diagnosis of DiGeorge Syndrome.
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- Clinical Pediatrics, 2016, v. 55, n. 4, p. 368, doi. 10.1177/0009922815591090
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- Article
Epidemiologic, Socioeconomic, and Clinical Factors Associated with Severity of Respiratory Syncytial Virus Infection in Previously Healthy Infants.
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- Clinical Pediatrics, 2006, v. 45, n. 7, p. 621, doi. 10.1177/0009922806291012
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- Article
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39272-0
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- Article
The Kinetics of Early T and B Cell Immune Recovery after Bone Marrow Transplantation in RAG-2-Deficient SCID Patients.
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- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030494
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- Article
The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients.
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- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013659
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- Article
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.
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- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3028-0
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- Article
Focal nodular hyperplasia in children.
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- 2001
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- Publication type:
- journal article
Granulomatosis cheilitis and Crohn disease.
- Published in:
- 2001
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- Publication type:
- journal article
Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.
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- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00109
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- Article
Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.
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- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01672
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- Article
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
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- Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3
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- Article
Eruption of urticaria and angioedema induced by binging and purging in an anorexia nervosa patient.
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- International Journal of Eating Disorders, 2016, v. 49, n. 8, p. 822, doi. 10.1002/eat.22514
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- Article
SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.
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- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1156823
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- Article
Sometimes double negative is positive.
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- Arthritis Care & Research, 2013, v. 65, n. 1, p. 161, doi. 10.1002/acr.21832
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- Article
Thymic involution, a co-morbidity factor in amyotrophic lateral sclerosis.
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- Journal of Cellular & Molecular Medicine, 2010, v. 14, n. 10, p. 2470, doi. 10.1111/j.1582-4934.2009.00863.x
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- Article
Treatment options for DOCK8 deficiency‐related severe dermatitis.
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- Journal of Dermatology, 2021, v. 48, n. 9, p. 1386, doi. 10.1111/1346-8138.15955
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- Article
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
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- 2018
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- Publication type:
- journal article
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.01775
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- Publication type:
- Article
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function.
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- Clinical & Experimental Immunology, 2021, v. 206, n. 1, p. 56, doi. 10.1111/cei.13636
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- Article
Complications of Minocycline Therapy for Acne Vulgaris: Case Reports and Review of the Literature.
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- Pediatric Dermatology, 1999, v. 16, n. 6, p. 469, doi. 10.1046/j.1525-1470.1999.00106.x
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- Publication type:
- Article
Timely and spatially regulated maturation of B and T cell repertoire during human fetal development.
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- Science Translational Medicine, 2015, v. 7, n. 276, p. 1, doi. 10.1126/scitranslmed.aaa0072
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- Article
Perspective - Was it All for Nothing?
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- Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01713-w
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- Article
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
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- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01614-4
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- Article
Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors.
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- Journal of Clinical Immunology, 2023, v. 43, n. 7, p. 1603, doi. 10.1007/s10875-023-01535-2
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- Article
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.
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- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 625, doi. 10.1007/s10875-022-01412-4
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- Publication type:
- Article
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses.
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- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 109, doi. 10.1007/s10875-022-01349-8
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- Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
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- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z
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- Article
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
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- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3
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- Publication type:
- Article
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
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- Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 666, doi. 10.1007/s10875-021-00980-1
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- Article