Works matching DE "SCHINZEL-Giedion syndrome"
Results: 16
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.
- Published in:
- 2017
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- Publication type:
- Case Study
Teriflunomide attenuates neuroinflammation-related neural damage in mice carrying human PLP1 mutations.
- Published in:
- 2018
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- Publication type:
- journal article
Unilateral Molariform Macrodont Mandibular Second Premolar: An Unusual Case Report in A Nonsyndromic Patient.
- Published in:
- 2014
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- Publication type:
- Case Study
Case Report: Schinzel Giedion Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Owen takes on triathlon challenge for cause close to his heart.
- Published in:
- Operating Theatre Journal, 2021, n. 371, p. 14
- Publication type:
- Article
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 1, p. 35, doi. 10.1007/s12041-017-0877-5
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- Publication type:
- Article
West Syndrome in a Patient With Schinzel-Giedion Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 7, p. 932, doi. 10.1177/0883073814541468
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- Publication type:
- Article
Quiz: What is your diagnosis?
- Published in:
- Journal of the Turkish-German Gynecological Association, 2021, v. 22, n. 1, p. 71, doi. 10.4274/jtgga.galenos.2020.2019.0208
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- Publication type:
- Article
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.
- Published in:
- 2015
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- Publication type:
- journal article
YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
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- Publication type:
- Article
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593446
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- Publication type:
- Article
World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1668, doi. 10.3390/children10101668
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- Publication type:
- Article
Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738
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- Publication type:
- Article
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00839-y
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- Publication type:
- Article