Found: 25
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Acute exacerbation of pulmonary arterial hypertension after COVID‐19 vaccination.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Usefulness of abdominal ultrasound for the diagnosis and follow-up of gastric accessory pancreas in a child.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15066
- By:
- Publication type:
- Article
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63575
- By:
- Publication type:
- Article
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
- By:
- Publication type:
- Article
Schuurs‐Hoeijmakers syndrome in two patients from Japan.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 341, doi. 10.1002/ajmg.a.9
- By:
- Publication type:
- Article
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2821, doi. 10.1002/ajmg.a.38405
- By:
- Publication type:
- Article
Proposal of a liver histology‐based scoring system for bile salt export pump deficiency.
- Published in:
- Hepatology Research, 2020, v. 50, n. 6, p. 754, doi. 10.1111/hepr.13494
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- Publication type:
- Article
Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cells.
- Published in:
- Scientific Reports, 2017, p. 41806, doi. 10.1038/srep41806
- By:
- Publication type:
- Article
Interinstitutional patient transfers between rapid chemotherapy cycles were feasible to utilize proton beam therapy for pediatric Ewing sarcoma family of tumors.
- Published in:
- Reports of Practical Oncology & Radiotherapy, 2018, v. 23, n. 5, p. 442, doi. 10.1016/j.rpor.2018.08.006
- By:
- Publication type:
- Article
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5979, doi. 10.3390/jcm12185979
- By:
- Publication type:
- Article
Kawasaki disease with dilatation of the common bile duct: A case report and review of literature.
- Published in:
- International Journal of Rheumatic Diseases, 2021, v. 24, n. 10, p. 1325, doi. 10.1111/1756-185X.14208
- By:
- Publication type:
- Article
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, p. 1, doi. 10.1186/s13023-024-03080-6
- By:
- Publication type:
- Article
Pediatric cardiac tamponade caused by metallic wire penetration into the heart: A case report and literature review.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Abdominal aortic thrombus formation in a neonate with an interrupted aortic arch.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 4, p. 1943, doi. 10.1002/ccr3.3911
- By:
- Publication type:
- Article
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 11, p. 2059, doi. 10.1002/ccr3.2377
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- Publication type:
- Article
The CXCL10-CXCR3 axis plays an important role in Kawasaki disease.
- Published in:
- Clinical & Experimental Immunology, 2024, v. 216, n. 1, p. 104, doi. 10.1093/cei/uxad125
- By:
- Publication type:
- Article
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 747, doi. 10.1007/s10875-023-01434-6
- By:
- Publication type:
- Article
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 1, p. 183, doi. 10.1007/s10875-021-01160-x
- By:
- Publication type:
- Article
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0056-8
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- Publication type:
- Article
Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound in children.
- Published in:
- Digestive Endoscopy, 2021, v. 33, n. 7, p. 1045, doi. 10.1111/den.13928
- By:
- Publication type:
- Article
Transient myelodysplasia triggered by parvovirus B19 infection in a male with inborn error of bile acid metabolism.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30486
- By:
- Publication type:
- Article
A Case of Anorexia Nervosa with Focal Cortical Dysplasia.
- Published in:
- Case Reports in Psychiatry, 2024, v. 2024, p. 1, doi. 10.1155/2024/7478666
- By:
- Publication type:
- Article
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
- Published in:
- Pediatric Transplantation, 2024, v. 28, n. 1, p. 1, doi. 10.1111/petr.14659
- By:
- Publication type:
- Article