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

Life Sciences, Genetics, Neurology +12

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

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

Life Sciences, Genetics, Neurology +15

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 · 85 citations

Life Sciences, Genetics, Neuroscience +16

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 · Full text

Life Sciences, Genetics, Molecular Genetics +8

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15