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  • 1-8 of  8 نتائج ل ""Gatinois, Vincent""

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Collection : Archive Ouverte Hal (Hyper Article En Ligne, Ccsd - Centre Pour La Communication Scientifique Directe) Language : english Subject : [sdv.mhep]life sciences [q-bio]/human health and pathology Subject : adult Subject : crispr-cas9 system Subject : humans Subject : in vivo study Subject : mesh Subject : mesh فلترة بواسطة : مؤلف
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Academic Journal

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Subjects: 1p36 deletion syndrome; chromosomal deletion; genotype–phenotype correlation

  • Source: ISSN: 1552-4825.

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Academic Journal

Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants

Subjects: tonsil; breastfeeding; automated microscopy scanning

  • Source: ISSN: 2073-4409 ; Cells ; https://hal.science/hal-04229310 ; Cells, 2023, 12 (16), pp.2116. ⟨10.3390/cells12162116⟩.

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Academic Journal

iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS

Subjects: MESH: Fibroblasts; MESH: Humans; MESH: Induced Pluripotent Stem Cells

  • Source: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.umontpellier.fr/hal-03576948 ; Stem Cell Research, Elsevier, 2020, 45, pp.101807. ⟨10.1016/j.scr.2020.101807⟩.

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Academic Journal

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

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

  • Source: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.umontpellier.fr/hal-02507359 ; Stem Cell Research, Elsevier, 2020, 43, pp.101696. ⟨10.1016/j.scr.2019.101696⟩.

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Academic Journal

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length

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

  • Source: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.umontpellier.fr/hal-02505693 ; Stem Cell Research, Elsevier, 2019, 39, pp.101515. ⟨10.1016/j.scr.2019.101515⟩.

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Academic Journal

Anatomical and functional abnormalities on MRI in kabuki syndrome

Subjects: Voxel-based morphometry; Kabuki syndrome; Hippocampus

  • Source: ISSN: 2213-1582 ; Neuroimage-Clinical ; https://hal.umontpellier.fr/hal-02573243 ; Neuroimage-Clinical, Elsevier, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩.

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Academic Journal

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Subjects: choroideremia; genetic instability; induced pluripotent stem cells

  • Source: ISSN: 2073-4409 ; Cells ; https://hal.umontpellier.fr/hal-02560222 ; Cells, MDPI, 2019, 8 (9), pp.1068. ⟨10.3390/cells8091068⟩.

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Academic Journal

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Subjects: Cytogenetics; Medical genetics; Neurodevelopmental disorders

  • Source: ISSN: 1018-4813.

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  • 1-8 of  8 نتائج ل ""Gatinois, Vincent""