CYP2U1 recessive recurrent missense mutation in a Gulf family with hereditary spastic paraplegia (SPG56).
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 96, doi. 10.4103/MXE.MXE_18_19
- By:
- Publication type:
- Article
Works matching IS 20908571 AND DT 2019 AND VI 8 AND IP 2
Results: 14
1
2
A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 90, doi. 10.4103/MXE.MXE_15_19
- By:
- Publication type:
- Article
3
Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 86, doi. 10.4103/MXE.MXE_10_19
- By:
- Publication type:
- Article
4
A novel frameshift mutation of COL7A1 in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 83, doi. 10.4103/MXE.MXE_3_19
- By:
- Publication type:
- Article
5
Bone-specific therapeutic modalities for genetic skeletal diseases.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 69, doi. 10.4103/MXE.MXE_3_20
- By:
- Publication type:
- Article
6
Cytogenetic study of a large cohort of patients with corpus callosum abnormalities.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 158, doi. 10.4103/MXE.MXE_7_20
- By:
- Publication type:
- Article
7
Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 150, doi. 10.4103/MXE.MXE_17_19
- By:
- Publication type:
- Article
8
Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 141, doi. 10.4103/MXE.MXE_24_19
- By:
- Publication type:
- Article
9
A rare NAGLU mutation in an Egyptian family with Sanfilippo B syndrome.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 135, doi. 10.4103/MXE.MXE_5_20
- By:
- Publication type:
- Article
10
Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 126, doi. 10.4103/MXE.MXE_22_19
- By:
- Publication type:
- Article
11
Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 119, doi. 10.4103/MXE.MXE_2_20
- By:
- Publication type:
- Article
12
CLN genes mutational analysis in a sample of Egyptian patients.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 113, doi. 10.4103/MXE.MXE_25_19
- By:
- Publication type:
- Article
13
A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 107, doi. 10.4103/MXE.MXE_16_19
- By:
- Publication type:
- Article
14
Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 100, doi. 10.4103/MXE.MXE_23_19
- By:
- Publication type:
- Article