Bassam Abu‐Libdeh

Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients

Steffen Emmert, Hanoch Slor, David B. Busch et al. · Journal of Investigative Dermatology · 2002 · 109 citations

Neurodegenerative Diseases, Mendelian Disorder, Neurologic Degeneration +8

<i>ETHE1</i> mutations are specific to ethylmalonic encephalopathy

Valeria Tiranti, Egill Briem, Eleonora Lamantea et al. · Journal of Medical Genetics · 2005 · 89 citations · Full text

Mutations in <i>SLC1A4</i>, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Nadirah Damseh, Alexandre Simonin, Chaim Jalas et al. · Journal of Medical Genetics · 2015 · 82 citations

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

Ruth Bargal, Marsha Zeigler, Bassam Abu‐Libdeh et al. · Molecular Genetics and Metabolism · 2006 · 77 citations

Gnpta Gene Mutations, Genetics, Pathogenesis +5

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis et al. · Human Mutation · 2012 · 67 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +23