Found: 8
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A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
- Published in:
- Clinical Pediatrics, 2023, v. 62, n. 6, p. 537, doi. 10.1177/00099228221136120
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- Publication type:
- Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 6, p. 530, doi. 10.1515/jpem-2022-0641
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- Publication type:
- Article
A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature.
- Published in:
- Neurology Asia, 2023, v. 28, n. 2, p. 421, doi. 10.54029/2023exu
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- Publication type:
- Article
Severe microcephaly and rapid deterioration due to cortical atrophy in early infancy: Consider TRAPPC4 trappopathy.
- Published in:
- 2022
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- Publication type:
- Case Study
Impending Central Retinal Vein Occlusion and Cilioretinal Artery Occlusion in a Pediatric Case with MTHFR A1298C Heterozygous Polymorphism and ANA Positivity.
- Published in:
- Retina-Vitreus/Journal of Retina-Vitreous, 2019, v. 28, n. 1, p. 83
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- Publication type:
- Article
Co-existence of Goldenhar and Klinefelter Syndromes in a Patient Born Following ICSI.
- Published in:
- 2018
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- Publication type:
- Case Study
Familial mutation in Caffey disease with reduced penetrance: A case report.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 6, p. 650, doi. 10.24953/turkjped.2016.06.011
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- Publication type:
- Article
The Roberts Syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2.
- Published in:
- Journal of the Pakistan Medical Association, 2014, v. 64, n. 4, p. 457
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- Publication type:
- Article