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  • 1-10 ل  29 نتائج ل ""Germline""

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Collection : Hospices Civils De Lyon (Hcl)
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Academic Journal

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Subjects: PIGA- Glycosylphosphatidylinositol-encephalopathy –early-onset epilepsy- whole-exome sequencing-next-generation sequencing 1; [SDV]Life Sciences [q-bio]; [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 1090-3798 ; European Journal of Paediatric Neurology ; https://hal.science/hal-03477017 ; European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩.

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Academic Journal

Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 0390-6078.

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Academic Journal

Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1932-6203.

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Academic Journal

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel- Lindau disease spectrum or with paraganglioma

Subjects: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 0022-2593.

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Academic Journal

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Subjects: 10X Genomics: Illumina; bioinformatics; genome sequencing

  • Source: EISSN: 2324-9269 ; Molecular Genetics & Genomic Medicine ; https://hal.science/hal-04383042 ; Molecular Genetics & Genomic Medicine, 2020, 8 (3), pp.1-10. ⟨10.1002/mgg3.1114⟩

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Academic Journal

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 0887-6924.

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Academic Journal

Type 1 serrated polyposis represents a predominantly female disease with a high prevalence of dysplastic serrated adenomas, without germline mutation in MUTYH, APC , and PTEN genes

Subjects: [SDV.CAN]Life Sciences [q-bio]/Cancer; [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology

  • Source: ISSN: 2050-6406.

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Academic Journal

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Subjects: somatic mosaicism; Cornelia de Lange syndrome; NIPBL

  • Source: ISSN: 0009-9163.

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Academic Journal

Chimeric oncogene regulates the EGR2 sarcoma susceptibility gene via a GGAA-microsatellite

Subjects: EWSR1-FLI1; Ewing sarcoma; germline susceptibility

  • Source: ISSN: 1061-4036.

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Academic Journal

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

Subjects: [SDV.CAN]Life Sciences [q-bio]/Cancer; [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology

  • Source: ISSN: 0021-972X.

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  • 1-10 ل  29 نتائج ل ""Germline""