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Genomic and phenotypic delineation of congenital microcephaly.
Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.
Genet Med. 2019.
PMID: 30214071
Free PMC article.
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan ZN, Almesned A, Tulbah S, Alakhfash A, Alhadeq F, Alruwaili N, Alkorashy M, Alhashem A, Alrashdan A, Faqeih E, Alkhalifi SM, Al Humaidi Z, Sogaty S, Azhari N, Bakhaider AM, Al Asmari A, Awaji A, Albash B, Alhabdan M, Alghamdi MA, Alshuaibi W, Al-Hassnan RZ, Alshenqiti A, Alqahtani A, Shinwari Z, Rbabeh M, Takroni S, Alomrani A, Albert Brotons DC, AlQwaee AM, Almanea W, Alfadley FA, Alfayyadh M, Alwadai A.
Al-Hassnan ZN, et al.
Circ Genom Precis Med. 2020 Oct;13(5):504-514. doi: 10.1161/CIRCGEN.120.002969. Epub 2020 Sep 1.
Circ Genom Precis Med. 2020.
PMID: 32870709
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The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
Shinwari ZMA, Almesned A, Alakhfash A, Al-Rashdan AM, Faqeih E, Al-Humaidi Z, Alomrani A, Alghamdi M, Colak D, Alwadai A, Rababh M, Al-Fayyadh M, Al-Hassnan ZN.
Shinwari ZMA, et al.
Cardiology. 2017;137(3):188-192. doi: 10.1159/000465516. Epub 2017 Apr 26.
Cardiology. 2017.
PMID: 28441660
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Clinical and biochemical features associated with BCS1L mutation.
Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N.
Al-Owain M, et al.
J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19.
J Inherit Metab Dis. 2013.
PMID: 22991165
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS.
AlAbdi L, et al.
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
Nat Commun. 2023.
PMID: 37644014
Free PMC article.
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