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  • 1-9 ل  9 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Collection : Universite De Toulon
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Academic Journal

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Subjects: MESH: Artificial Intelligence; Humans; Muscular Dystrophy

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://amu.hal.science/hal-03596523 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.96. ⟨10.1186/s13023-021-01793-6⟩ ;

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Academic Journal

Rare Collagenous Heterozygote Variants in Children With IgA Nephropathy

Subjects: Alport syndrome; children; COL4A3 variants

  • Source: ISSN: 2468-0249 ; Kidney International Reports ; https://hal.sorbonne-universite.fr/hal-03232426 ; Kidney International Reports, 2021, 6 (5), pp.1326 - 1335. ⟨10.1016/j.ekir.2021.02.022⟩.

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Academic Journal

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Subjects: genetic predisposition to breast and ovarian cancer; cancer risk estimate; multigene panels

  • Source: ISSN: 2072-6694.

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Academic Journal

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Subjects: breast cancer; case-control study; exome sequencing

  • Source: ISSN: 0020-7136.

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Academic Journal

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Subjects: ASPM; MCPH; brain development

  • Source: ISSN: 1059-7794.

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Academic Journal

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Subjects: medullary thyroid cancer (MTC); RET oncogene; pheochromocytoma (PHEO)

  • Source: ISSN: 1050-7256 ; Thyroid ; https://amu.hal.science/hal-01731580 ; Thyroid, 2017, 27 (12), pp.1511-1522. ⟨10.1089/thy.2016.0399⟩.

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Academic Journal

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Subjects: Dysphagia; Cataracts; Maternal inheritance

  • Source: ISSN: 1932-6203.

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Academic Journal

miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Subjects: FSHD; D4Z4; Differentiation

  • Source: ISSN: 1932-6203.

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Academic Journal

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

Subjects: telomere; CTCF; genome stability & dynamics

  • Source: ISSN: 0261-4189.

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  • 1-9 ل  9 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""