Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases

por Altamimi, Eyad, Khanfar, Mariam, Rabab’h, Omar, Dardas, Zain, Srour, Luma, Mustafa, Lina, Azab, Bilal
Publicado 2020

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

por Azab, Belal, Dardas, Zain, Hamarsheh, Mohannad, Alsalem, Mohammad, Kilani, Zaid, Kilani, Farah, Awidi, Abdalla, Jafar, Hanan, Amr, Sami
Publicado 2017

Genotoxicity of cisplatin and carboplatin in cultured human lymphocytes: a comparative study

por AZAB, Belal, ALASSAF, Anood, ABU-HUMDAN, Abdulrahman, DARDAS, Zain, ALMOUSA, Hashem, ALSALEM, Mohammad, KHABOUR, Omar, HAMMAD, Hana, SALEH, Tareq, AWIDI, Abdalla
Publicado 2019

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees

por Al-Bdour, Muawyah, Pauleck, Svenja, Dardas, Zain, Barham, Raghda, Ali, Dema, Amr, Sami, Mustafa, Lina, Abu-Ameerh, Mohammed, Maswadi, Ranad, Azab, Belal, Awidi, Abdalla
Publicado 2020

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

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

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

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

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

por Abu‐Ameerh, Mohammed, Mohammad, Hashim, Dardas, Zain, Barham, Raghda, Ali, Dema, Bijawi, Maysa, Tawalbeh, Mohamed, Amr, Sami, Hatmal, Ma'mon M., Al‐Bdour, Muawyah, Awidi, Abdalla, Azab, Belal
Publicado 2020

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

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

TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects

por Azab, Bilal, Aburizeg, Dunia, Ji, Weizhen, Jeffries, Lauren, Isbeih, Nooredeen Jamal, Al-Akily, Amal Saleh, Mohammad, Hashim, Osba, Yousef Abu, Shahin, Mohammad A., Dardas, Zain, Hatmal, Ma'mon M., Al-Ammouri, Iyad, Lakhani, Saquib
Publicado 2022