Found: 8
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Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.
- Published in:
- Clinical & Experimental Pediatrics, 2023, v. 66, n. 5, p. 223, doi. 10.3345/cep.2022.01074
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- Publication type:
- Article
Depression in adult patients with biotin responsive basal ganglia disease.
- Published in:
- Drug Discoveries & Therapeutics, 2016, v. 10, n. 4, p. 223, doi. 10.5582/ddt.2016.01046
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- Publication type:
- Article
Use of a Mortality Prediction Model in Children on Mechanical Ventilation: A 5-Year Experience in a Tertiary University Hospital.
- Published in:
- Journal of Multidisciplinary Healthcare, 2020, p. 1507, doi. 10.2147/JMDH.S282108
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- Publication type:
- Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
- Published in:
- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
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- Publication type:
- Article
Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients.
- Published in:
- Saudi Medical Journal, 2021, v. 42, n. 9, p. 969, doi. 10.15537/smj.2021.42.9.20210240
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- Publication type:
- Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
- Published in:
- 2017
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- Publication type:
- journal article
Neonatal adrenal hemorrhage presenting as acute scrotum.
- Published in:
- Annals of Pediatric Surgery, 2013, v. 9, n. 4, p. 155, doi. 10.1097/01.XPS.0000434560.59387.a5
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- Publication type:
- Article
Aortic calcification in Gaucher disease: a case report.
- Published in:
- Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995
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- Publication type:
- Article