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النتائج لكل صفحة: 10
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  • 1-6 ل  6 نتائج ل ""MOLECULAR diagnosis""

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Collection : Universite De Reims Champagne-Ardenne Sort Order : Relevance
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Academic Journal

Comparative Study of Eleven Mechanical Pretreatment Protocols for Cryptosporidium parvum DNA Extraction from Stool Samples

Subjects: Cryptosporidium parvum; mechanical pretreatment; DNA extraction

  • Source: ISSN: 2076-2607 ; Microorganisms ; https://hal.univ-reims.fr/hal-03152180 ; Microorganisms, 2021, 9 (2), pp.297. ⟨10.3390/microorganisms9020297⟩.

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Academic Journal

Multicenter Comparative Study of Six Cryptosporidium parvum DNA Extraction Protocols Including Mechanical Pretreatment from Stool Samples

Subjects: stool samples; real-time PCR; molecular diagnosis

  • Source: ISSN: 2076-2607 ; Microorganisms ; https://hal.science/hal-02964505 ; Microorganisms, 2020, 8 (9), pp.1450. ⟨10.3390/microorganisms8091450⟩.

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Academic Journal

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Subjects: Progeroid Panel Pathogenic variant; Progeroid; variant

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04675356 ; Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.288. ⟨10.1186/s13023-019-1189-z⟩.

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Academic Journal

Evolution of Toxoplasma-PCR methods and practices: a French national survey and proposal for technical guidelines

Subjects: technical guidelines; prenatal diagnosis; PCR

  • Source: ISSN: 0020-7519 ; International Journal for Parasitology ; https://hal.umontpellier.fr/hal-02318790 ; International Journal for Parasitology, 2018, 48 (9-10), pp.701-707.

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Academic Journal

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Subjects: RNA-seq; clinical diagnoses; genome sequencing

  • Source: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://univ-rennes.hal.science/hal-04067649 ; Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920.

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Academic Journal

Clinical Genetics of Prolidase Deficiency: An Updated Review

Subjects: prolidase deficiency; PEPD gene; systematic review

  • Source: ISSN: 2079-7737 ; Biology ; https://hal.univ-reims.fr/hal-03405955 ; Biology, 2020, 9, ⟨10.3390/biology9050108⟩.

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  • 1-6 ل  6 نتائج ل ""MOLECULAR diagnosis""