Alice Abdel Aleem

发表

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

Karsten Suhre, Mashael Al-Shafai, K. Suhre, 2014, BMC Research Notes.

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

M. Zaki, Alice Abdel Aleem, I. Kamal, 2012 .

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

K. Suhre, N. Chalhoub, Mashael Al-Shafai, 2014, BMC Research Notes.

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant

N. Chalhoub, Alice Abdel Aleem, M. Elsaid, 2020, Neuromuscular Disorders.

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum

J. Malek, N. Chalhoub, T. Ben-Omran, 2014, American journal of medical genetics. Part A.

Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex

M. Ross, D. Antonetti, Raphael M. Bendriem, 2019, eLife.

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

J. Malek, K. Suhre, N. Chalhoub, 2017, Annals of neurology.

DNA Sequencing Resolves Misdiagnosed and Rare Genetic Disorders

Alice Abdel Aleem, 2019, Biochemical Analysis Tools - Methods for Bio-Molecules Studies.

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

N. Chalhoub, T. Ben-Omran, Alice Abdel Aleem, 2018, Clinical genetics.