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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error.
J Appl Lab Med. 2023 Sep 7;8(5):993-999. doi: 10.1093/jalm/jfad039.
J Appl Lab Med. 2023.
PMID: 37478349
No abstract available.
The genomic landscape of rare disorders in the Middle East.
El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, Rizk R, Alloub Z, Elbashir H, Babiker MOE, Chencheri N, AlBanna A, Sultan M, El Bitar M, Kherani S, Thalange N, Alshryda S, Di Donato R, Tzivinikos C, Majid I, Freeman AF, Gonzalez C, Khan AO, Hamdan H, Abuhammour W, AlAwadhi M, AlKhayat A, Alsheikh-Ali A, Abou Tayoun AN.
El Naofal M, et al. Among authors: rabea f.
Genome Med. 2023 Jan 27;15(1):5. doi: 10.1186/s13073-023-01157-8.
Genome Med. 2023.
PMID: 36703223
Free PMC article.
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