Found: 27
Select item for more details and to access through your institution.
Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Mutational analysis of theWASP gene in 2 Korean families with Wiskott-Aldrich syndrome.
- Published in:
- International Journal of Hematology, 2003, v. 77, n. 2, p. 40, doi. 10.1007/BF02983238
- By:
- Publication type:
- Article
Long QT syndrome with a de novo CALM2 mutation in a 4‐year‐old boy.
- Published in:
- Pediatrics International, 2019, v. 61, n. 9, p. 852, doi. 10.1111/ped.13959
- By:
- Publication type:
- Article
Successful treatment of neonatal idiopathic ventricular tachycardia with landiolol hydrochloride.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Exclusive breast‐feeding and postnatal changes in blood sodium, ketone, and glucose levels.
- Published in:
- Pediatrics International, 2019, v. 61, n. 5, p. 471, doi. 10.1111/ped.13824
- By:
- Publication type:
- Article
Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11‐ and 15‐year‐old sisters.
- Published in:
- Pediatrics International, 2018, v. 60, n. 11, p. 998, doi. 10.1111/ped.13688
- By:
- Publication type:
- Article
Virus myocarditis in a 1-month-old boy presenting as two types of paroxysmal supraventricular tachycardia.
- Published in:
- Pediatrics International, 2017, v. 59, n. 5, p. 627, doi. 10.1111/ped.13261
- By:
- Publication type:
- Article
Left atrium thrombus in an extremely low-birthweight infant with late-onset circulatory dysfunction.
- Published in:
- Pediatrics International, 2012, v. 54, n. 4, p. 555, doi. 10.1111/j.1442-200X.2011.03531.x
- By:
- Publication type:
- Article
Transcriptional regulatory defects in the first intron of Bruton’s tyrosine kinase.
- Published in:
- Pediatrics International, 2008, v. 50, n. 6, p. 801, doi. 10.1111/j.1442-200X.2008.02739.x
- By:
- Publication type:
- Article
Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy’s disease.
- Published in:
- Pediatrics International, 2008, v. 50, n. 1, p. 116, doi. 10.1111/j.1442-200X.2007.02505.x
- By:
- Publication type:
- Article
Point mutation in intron 11 of Bruton’s tyrosine kinase in atypical X-linked agammaglobulinemia.
- Published in:
- Pediatrics International, 2000, v. 42, n. 6, p. 689, doi. 10.1046/j.1442-200x.2000.01293.x
- By:
- Publication type:
- Article
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 8, p. 577, doi. 10.1038/jhg.2011.61
- By:
- Publication type:
- Article
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 6, p. 322, doi. 10.1007/s10038-003-0032-4
- By:
- Publication type:
- Article
A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells.
- Published in:
- International Immunology, 2009, v. 21, n. 9, p. 1013, doi. 10.1093/intimm/dxp067
- By:
- Publication type:
- Article
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 360, doi. 10.1002/ajmg.a.38011
- By:
- Publication type:
- Article
Commotio Cordis Presenting as a Temporary Complete Atrioventricular Block in a 2-Year-Old Girl With Congenitally Corrected Transposition of the great Arteries.
- Published in:
- 2011
- By:
- Publication type:
- Report
Three-Dimensional Computed Tomographic Findings of Bilateral Tracheal Bronchus.
- Published in:
- Pediatric Cardiology, 2009, v. 30, n. 1, p. 87, doi. 10.1007/s00246-008-9298-9
- By:
- Publication type:
- Article
Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder.
- Published in:
- European Journal of Haematology, 2008, v. 81, n. 1, p. 58, doi. 10.1111/j.1600-0609.2008.01061.x
- By:
- Publication type:
- Article
Congenital Corneal Staphyloma Associated With Aphakia.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 3, p. 180, doi. 10.3928/0191-3913-20040501-13
- By:
- Publication type:
- Article
Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy.
- Published in:
- BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-05186-z
- By:
- Publication type:
- Article
Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 5, p. 454, doi. 10.1007/s00467-003-1087-3
- By:
- Publication type:
- Article
X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis.
- Published in:
- American Journal of Hematology, 2005, v. 78, n. 2, p. 130, doi. 10.1002/ajh.20261
- By:
- Publication type:
- Article
Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene.
- Published in:
- Endocrine Journal, 2018, v. 65, n. 10, p. 1055, doi. 10.1507/endocrj.ej18-0054
- By:
- Publication type:
- Article
Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.
- Published in:
- British Journal of Haematology, 2001, v. 114, n. 1, p. 141, doi. 10.1046/j.1365-2141.2001.02905.x
- By:
- Publication type:
- Article
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 235, doi. 10.1002/humu.9060
- By:
- Publication type:
- Article
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 356, doi. 10.1002/humu.1200
- By:
- Publication type:
- Article