List of works by Alice Abdel Aleem

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection

scientific article

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

scientific article

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

scientific article published on 8 August 2017

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

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