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Academic Journal

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing.

Authors : Braegelmann, Johanna¹ (AUTHOR) johannasibylle.braegelmann@uk‐essen.de; Mathew, Annie¹ (AUTHOR); Führer‐Sakel, Dagmar¹ (AUTHOR)

Source: Clinical Case Reports. Apr2024, Vol. 12 Issue 4, p1-4. 4p.

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Factors associated with prolonged progression‐free survival of patients treated with first‐line afatinib for advanced epidermal growth factor receptor‐mutated non‐small cell lung cancer.

Authors : Chiu, Li‐Chung¹ (AUTHOR); Hsu, Ping‐Chih¹ (AUTHOR); Wang, Chin‐Chou² (AUTHOR)

Source: Thoracic Cancer. Mar2024, Vol. 15 Issue 7, p529-537. 9p.

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Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.

Authors : Neissi, Mostafa^1,2,3 (AUTHOR) ; Sheikh‐Hosseini, Motahareh^3,4 (AUTHOR); Mohammadi‐Asl, Javad^3,5 (AUTHOR)

Source: Clinical Case Reports. Mar2024, Vol. 12 Issue 3, p1-8. 8p.

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Genotype‐phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3‐kinase catalytic subunit alpha mutations.

Authors : Wang, Jie^1,2 (AUTHOR); Tang, Jihong^3,4 (AUTHOR); Yang, Yingxi⁴ (AUTHOR)

Source: Clinical & Translational Medicine. Mar2024, Vol. 14 Issue 3, p1-7. 7p.

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First case of nodular dermatofibrosis with cystic renal disease in a beagle: An atypical case without FLCN gene mutation.

Authors : Gómez‐Barris, Belén Rivera¹ (AUTHOR) ; Balazs, Veronica¹ (AUTHOR); Villamar, Katherine Chaguay² (AUTHOR)

Source: Veterinary Medicine & Science. Mar2024, Vol. 10 Issue 2, p1-4. 4p.

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A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.

Authors : Ma, Xiuli^1,2 (AUTHOR); Zhao, Liping¹ (AUTHOR); Li, Li² (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-8. 8p.

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Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.

Authors : He, Danyue^1,2,3 (AUTHOR); Liu, Xiaonan^1,2,3 (AUTHOR); Yao, Tianyu^1,2,3 (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-8. 8p.

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A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

Authors : Sun, Jian¹ (AUTHOR); Yang, Nian² (AUTHOR); Xu, Zhengquan³ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-8. 8p.

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Mutations of epigenetic genes and correlation with treatment response in peripheral T‐cell lymphoma.

Authors : Wei, Chong¹ (AUTHOR); Wang, Wei¹ (AUTHOR); Li, Wanying² (AUTHOR)

Source: Clinical & Translational Medicine. Jan2024, Vol. 14 Issue 1, p1-6. 6p.

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Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease.

Authors : Khani, Marzieh^1,2 (AUTHOR); Shamshiri, Hosein^2,3 (AUTHOR); Nafissi, Shahriar^2,3 (AUTHOR)

Source: Clinical Case Reports. Jan2024, Vol. 12 Issue 1, p1-5. 5p.

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