Egyptian Journal of Medical Human Genetics

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Top Publications

• Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

  Heba Amin Hassan;Maha Saad Zaki;Mahmoud Yousry Issa;Nagham Maher El-Bagoury

  (2020)
  16 Citations

• Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

  Nurin Aisyiyah Listyasari;Achmad Zulfa Juniarto;Gorjana Robevska;Katie L. Ayers

  (2021)
  6 Citations

• MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

  (2022)
  3 Citations

• A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

  (2022)
  2 Citations

• Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

  (2022)
  2 Citations

• A case of spastic paraplegia type 11 with a variation in the SPG11 gene

  (2020)
  1 Citations

• ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

  (2024)
  0 Citations

• N- and O-glycan analysis for the detection of glycosylation disorders

  Amr Sobhi Gouda;Azza Fahmy Elbaz;Thierry Dupré;Ola Sayed Mohamed Ali

  (2021)
  0 Citations