Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation

by Noor Almaani, Heba Al-Lala, Laith Al-Showbaki, Dunia Aburizeg, Bilal Azab
Published 2024-06-01

Potential Composite Digenic Contribution of <i>NPC1</i> and <i>NOD2</i> Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phen...

by Bilal Azab, Omar Rabab’h, Dunia Aburizeg, Hashim Mohammad, Zain Dardas, Lina Mustafa, Ruba A. Khasawneh, Heyam Awad, Ma’mon M. Hatmal, Eyad Altamimi
Published 2022-05-01

<i>SLC26A4</i> Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

by Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab
Published 2022-11-01

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

by Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Published 2021-04-01