Found: 33
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Spinal muscular atrophy type 1 with anti-acetylcholine receptor antibody.
- Published in:
- 2002
- By:
- Publication type:
- Letter
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
- By:
- Publication type:
- Article
Duchenne muscular dystrophy diagnosis using fibroblast-derived myotube cells.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15151
- By:
- Publication type:
- Article
Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. e37, doi. 10.1111/ped.12384
- By:
- Publication type:
- Article
Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis.
- Published in:
- Pediatrics International, 2011, v. 53, n. 5, p. 771, doi. 10.1111/j.1442-200X.2010.03308.x
- By:
- Publication type:
- Article
Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura.
- Published in:
- Pediatrics International, 2011, v. 53, n. 5, p. 766, doi. 10.1111/j.1442-200X.2011.03445.x
- By:
- Publication type:
- Article
Three patients with DeSanto‐Shinawi syndrome: Further phenotypic delineation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1335, doi. 10.1002/ajmg.a.38703
- By:
- Publication type:
- Article
Mutations of the GATA2 and CEBPA genes in paediatric acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 2014, v. 164, n. 1, p. 142, doi. 10.1111/bjh.12559
- By:
- Publication type:
- Article
Identification of a small molecule that facilitates the differentiation of human iPSCs/ESCs and mouse embryonic pancreatic explants into pancreatic endocrine cells.
- Published in:
- Diabetologia, 2017, v. 60, n. 8, p. 1454, doi. 10.1007/s00125-017-4302-7
- By:
- Publication type:
- Article
Insulin‐producing cells derived from ‘induced pluripotent stem cells’ of patients with fulminant type 1 diabetes: Vulnerability to cytokine insults and increased expression of apoptosis‐related genes.
- Published in:
- Journal of Diabetes Investigation, 2018, v. 9, n. 3, p. 481, doi. 10.1111/jdi.12727
- By:
- Publication type:
- Article
Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog.
- Published in:
- Stem Cells Translational Medicine, 2016, v. 5, n. 2, p. 152, doi. 10.5966/sctm.2015-0059
- By:
- Publication type:
- Article
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
- Published in:
- Congenital Anomalies, 2022, v. 62, n. 2, p. 82, doi. 10.1111/cga.12454
- By:
- Publication type:
- Article
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 6, p. 226, doi. 10.1111/cga.12435
- By:
- Publication type:
- Article
Immunogenicity of SARS-CoV-2 mRNA intramuscular vaccination in patients with muscular disorders.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1103196
- By:
- Publication type:
- Article
Diffuse large B-cell lymphoma presenting with osteolytic lesions in the bilateral femur.
- Published in:
- European Journal of Haematology, 2009, v. 83, n. 5, p. 502, doi. 10.1111/j.1600-0609.2009.01300.x
- By:
- Publication type:
- Article
A positive Donath-Landsteiner test in paroxysmal cold haemoglobinuria.
- Published in:
- 2007
- By:
- Publication type:
- Other
Efficacy of 5% sofpironium bromide gel in Duchenne muscular dystrophy with palmoplantar hyperhidrosis: A retrospective case study.
- Published in:
- Journal of Dermatology, 2024, v. 51, n. 1, p. 135, doi. 10.1111/1346-8138.16990
- By:
- Publication type:
- Article
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2360, doi. 10.1002/acn3.51925
- By:
- Publication type:
- Article
Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235
- By:
- Publication type:
- Article
Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 181, doi. 10.1002/acn3.50978
- By:
- Publication type:
- Article
Nationwide survey of Baller-Gerold syndrome in Japanese population.
- Published in:
- Molecular Medicine Reports, 2017, v. 15, n. 5, p. 3222, doi. 10.3892/mmr.2017.6408
- By:
- Publication type:
- Article
A Complement Factor B Mutation in a Large Kindred with Atypical Hemolytic Uremic Syndrome.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 6, p. 691, doi. 10.1007/s10875-014-0058-8
- By:
- Publication type:
- Article
The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model.
- Published in:
- Neurochemical Research, 2019, v. 44, n. 7, p. 1773, doi. 10.1007/s11064-019-02814-4
- By:
- Publication type:
- Article
A Docosahexaenoic Acid-Derived Pro-resolving Agent, Maresin 1, Protects Motor Neuron Cells Death.
- Published in:
- Neurochemical Research, 2018, v. 43, n. 7, p. 1413, doi. 10.1007/s11064-018-2556-1
- By:
- Publication type:
- Article
Acute cerebellitis associated with rotavirus infection.
- Published in:
- World Journal of Pediatrics, 2013, v. 9, n. 1, p. 87, doi. 10.1007/s12519-011-0298-0
- By:
- Publication type:
- Article
Changes of Autonomic Nervous System Function in Patients With Breath-Holding Spells Treated With Iron.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 5, p. 337, doi. 10.1177/088307380201700505
- By:
- Publication type:
- Article
Paclitaxel-based chemotherapy for aggressive kaposiform hemangioendothelioma of the temporomastoid region: Case report and review of the literature.
- Published in:
- Head & Neck, 2013, v. 35, n. 8, p. E258, doi. 10.1002/hed.23107
- By:
- Publication type:
- Article
Efficacy of interferential current transcutaneous electrical sensory stimulation through the neck skin for treating dysphagia in children with disabilities: A case series.
- Published in:
- SAGE Open Medical Case Reports, 2023, p. 1, doi. 10.1177/2050313X221149527
- By:
- Publication type:
- Article
Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39788-w
- By:
- Publication type:
- Article
VGF nerve growth factor inducible is involved in retinal ganglion cells death induced by optic nerve crush.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34585-3
- By:
- Publication type:
- Article
Development of an osteosarcoma model with MYCN amplification and TP53 mutation in hiPS cell‐derived neural crest cells.
- Published in:
- Cancer Science, 2023, v. 114, n. 5, p. 1898, doi. 10.1111/cas.15730
- By:
- Publication type:
- Article
Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT.
- Published in:
- Cancer Science, 2021, v. 112, n. 7, p. 2821, doi. 10.1111/cas.14919
- By:
- Publication type:
- Article