Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation von Almaani, Noor, Al-Lala, Heba, Al-Showbaki, Laith, Aburizeg, Dunia, Azab, Bilal

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Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan von Azab, Bilal, Aburizeg, Dunia, Shaaban, Sherin T., Ji, Weizhen, Mustafa, Lina, Isbeih, Nooredeen Jamal, Al-Akily, Amal Saleh, Mohammad, Hashim, Jeffries, Lauren, Khokha, Mustafa, Lakhani, Saquib A., Al-Ammouri, Iyad

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Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia von Altamimi, Eyad, Rabab’h, Omar, Aburizeg, Dunia, Akasheh, Lynn, Dardas, Zain, Srour, Luma, Awad, Heyam, Azab, Bilal

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ISLC26A4/I Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management von 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

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Potential Composite Digenic Contribution of INPC1/I and INOD2/I Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Co... von Azab, Bilal, Rabab?h, Omar, Aburizeg, Dunia, Mohammad, Hashim, Dardas, Zain, Mustafa, Lina, Khasawneh, Ruba A, Awad, Heyam, Hatmal, Ma?mon M, Altamimi, Eyad

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

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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies von 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

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

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

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