نتائج البحث

A novel mutation in the SH3BP2 gene causes cherubism: case report.

• Authors : Cui-Ying Li¹ ; Shi-Feng Yu¹

• Source: BMC Medical Genetics. 2006, Vol. 7, p84-7. 7p. 6 Color Photographs, 4 Black and White Photographs, 1 Chart.

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Influence of advanced age of maternal grandmothers on Down syndrome.

• Authors : Suttur S Malini¹ ; Nallur B Ramachandra¹

• Source: BMC Medical Genetics. 2006, Vol. 7, p4-5. 5p. 1 Black and White Photograph, 2 Charts.

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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

• Authors : Min Lei; Shoujin Kuang; Yanjuan Tan

Subjects: 0301 basic medicine; Models, Molecular; medicine.medical_specialty

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)BMC Medical Genetics

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Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

• Authors : San Mei Wang; Yan Wang; Yuhan Chen

Subjects: 0301 basic medicine; Male; Dystrophin gene

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

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Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk

• Authors : Kristina M. Jordahl; Lesley F. Tinker; Parveen Bhatti

Subjects: 0301 basic medicine; Oncology; Adult

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)BMC Medical Genetics

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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 : Zhiqiang Yi; Chunwei Li; Kan Gong

Subjects: 0301 basic medicine; Adult; Male

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

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Development of an immunogenomic landscape for the competing endogenous RNAs network of peri-implantitis

• Authors : Ji Na Zheng; Keng Fu Lan; Chan Juan Gong

Subjects: 0301 basic medicine; miR-1297; Datasets as Topic

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

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Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia

• Authors : Yansong Liu; Fuquan Zhang; Conghua Zhou

Subjects: 0301 basic medicine; Adult; Male

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

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Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report

• Authors : Seung-Hyun Jung; Yeun-Jun Chung; Sun Shin

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)BMC Medical Genetics

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Novel variants of ABCA4 in Han Chinese families with Stargardt disease

• Authors : Jiankang Li; Dan-Dan Wang; Fang-Yuan Hu

Subjects: 0301 basic medicine; Untranslated region; Male

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

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