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  • 1-8 ل  8 نتائج ل ""GENETIC testing""

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Collection : Hal-Cea (Commissariat A L'energie Atomique Et Aux Energies Alternatives)
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Academic Journal

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Subjects: hereditary heart diseases; predictive genetic testing; psychological

  • Source: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.sorbonne-universite.fr/hal-02882035 ; Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩.

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Academic Journal

Genetic testing offer for inherited neuromuscular diseases within the EURO- NMD reference network: A European survey study

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

  • Source: ISSN: 1932-6203.

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Academic Journal

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

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

  • Source: ISSN: 1472-6483.

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Academic Journal

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

Subjects: PRNP; presymptomatic testing; prion

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://hal.sorbonne-universite.fr/hal-02305878 ; Frontiers in Genetics, 2019, 10, pp.895. ⟨10.3389/fgene.2019.00895⟩.

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Academic Journal

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Subjects: Central Nervous System Diseases; Clinical Laboratory Techniques; Genetic Research

  • Source: ISSN: 0022-2593.

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Academic Journal

Transcriptome analyses based on genetic screens for Pax3 myogenic targets in the mouse embryo.

Subjects: MESH: Animals; MESH: Base Sequence; MESH: Muscle Development

  • Source: ISSN: 1471-2164 ; BMC Genomics ; https://pasteur.hal.science/pasteur-00644394 ; BMC Genomics, 2010, 11 (1), pp.696. ⟨10.1186/1471-2164-11-696⟩.

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Academic Journal

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

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

  • Source: ISSN: 2332-7812 ; Neurology Neuroimmunology & Neuroinflammation ; https://hal.science/hal-03831137 ; Neurology Neuroimmunology & Neuroinflammation, 2018, 6, pp.e523.

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Academic Journal

Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

Subjects: Neuromuscular diseases; Pre-conception carrier screening; Pre-implantation diagnosis

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-03141230 ; Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-020-01670-8⟩.

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  • 1-8 ل  8 نتائج ل ""GENETIC testing""