نتائج البحث

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

• Authors : Zhou, Yingjie¹ (AUTHOR); Tariq, Muhammad² (AUTHOR); He, Sijie^3,4 (AUTHOR)

• Source: BMC Medical Genetics. 7/18/2020, Vol. 21 Issue 1, p1-8. 8p.

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Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts

• Authors : Rachel M. Jones; Phillip E. Melton; Mark Pinese

Subjects: Sarcoma; Whole exome sequencing; Cancer cluster families

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

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Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

• Authors : Hanley, Alan^1,2; Walsh, Katie A.³; Joyce, Caroline³

• Source: BMC Medical Genetics. 11/17/2016, Vol. 17, p1-7. 7p.

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Novel variants of ABCA4 in Han Chinese families with Stargardt disease

• Authors : Fang-Yuan Hu; Feng-Juan Gao; Jian-kang Li

Subjects: ABCA4 gene; STGD1; Han Chinese patients

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

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Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families

• Authors : Tawfiq Froukh; Ammar Hawwari; Khalid Al Zubi

Subjects: NGS; Genome; Ocular

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

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Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations

• Authors : Shanshan Gao; Shuang Hu; Huikun Duan

Subjects: XLA; BTK; Gene mutations

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

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Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel–Lindau disease: case report

• Authors : Zhen Liu; Jingcheng Zhou; Liang Li

Subjects: Central nervous system; Hemangioblastoma; Von Hippel–Lindau

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

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Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

• Authors : Dan Sun; Zhimei Liu; Yongchu Liu

Subjects: Leigh syndrome; ECHS1; Whole-exome sequencing

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)

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A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

• Authors : Yongqing Tong; Bei Liu; Hongyun Zheng

Subjects: D-G6PD; Variant; Neonatal jaundice

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)

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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

• Authors : Rafiq, Muhammad Arshad; Leblond, Claire S; Saqib, Muhammad Arif Nadeem

Subjects: Fingers; Humans; Microcephaly

• Source: BMC medical genetics. 16(1)

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