Works matching IS 11108630 AND DT 2011 AND VI 12 AND IP 1
Results: 16
Hereditary multiple exostoses, macrocephaly, congenital heart disease, developmental delay, and mental retardation in a female patient: A possible new syndrome? Or new association?
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 95, doi. 10.1016/j.ejmhg.2011.02.006
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- Publication type:
- Article
Educational Corner of the Issue.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 103, doi. 10.1016/j.ejmhg.2011.02.013
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- Publication type:
- Article
Colchicine resistant FMF is not always true resistance.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 99, doi. 10.1016/j.ejmhg.2011.02.007
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- Article
Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient.
- Published in:
- 2011
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- Publication type:
- Case Study
Non HLA genetic markers association with type-1 diabetes mellitus.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 39, doi. 10.1016/j.ejmhg.2011.02.012
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- Article
Congenital malformations prevalent among Egyptian children and associated risk factors.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 69, doi. 10.1016/j.ejmhg.2011.02.016
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- Article
Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 63, doi. 10.1016/j.ejmhg.2011.02.014
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- Publication type:
- Article
Hemoglobin alpha 2 gene +861 G>A polymorphism in Turkish population.
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- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 59, doi. 10.1016/j.ejmhg.2011.02.005
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- Publication type:
- Article
Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 49, doi. 10.1016/j.ejmhg.2011.02.002
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- Publication type:
- Article
Chromosomal study in newborn infants with congenital anomalies in Assiut University hospital: Cross-sectional study.
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- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 79, doi. 10.1016/j.ejmhg.2011.02.003
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- Publication type:
- Article
Risk factors for autism: An Egyptian study.
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- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 31, doi. 10.1016/j.ejmhg.2011.02.011
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- Publication type:
- Article
Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 25, doi. 10.1016/j.ejmhg.2011.02.015
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- Publication type:
- Article
A novel MEFV gene mutation (A511V) in a Chilean FMF patient.
- Published in:
- 2011
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- Publication type:
- Case Study
A study of new potential risk factors for Down syndrome in Upper Egypt.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 15, doi. 10.1016/j.ejmhg.2011.02.009
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- Publication type:
- Article
Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience.
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- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 9, doi. 10.1016/j.ejmhg.2011.02.008
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- Publication type:
- Article
Nutritional genomics and personalized diet.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2011, v. 12, n. 1, p. 1, doi. 10.1016/j.ejmhg.2011.02.001
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- Publication type:
- Article