مكتبة

Source: ISSN: 2096-5303 ; Precision Clinical Medicine ; https://hal.science/hal-04191730 ; Precision Clinical Medicine, 2023, 6 (2), pbad015. ⟨10.1093/pcmedi/pbad015⟩.

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CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Authors : Tauziède-Espariat, Arnault; Uro-Coste, Emmanuelle; Sievers, Philipp ...

Subjects: EP300; BCOR; Adult

Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://u-paris.hal.science/hal-04087524 ; Acta Neuropathologica Communications, 2023, 11, pp.26. ⟨10.1186/s40478-023-01523-y⟩ ;

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Academic Journal

Prader–Willi syndrome: Symptoms and topiramate response in light of genetics

Authors : Louveau, Cécile; Turtulici, Mimi-Caterina; Consoli, Angèle ...

Subjects: Prader-Willi; topiramate; treatment

Source: ISSN: 1662-4548.

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Obesity-associated changes in molecular biology of primary breast cancer

Authors : Nguyen, Ha-Linh; Geukens, Tatjana; Maetens, Marion ...

Subjects: [SDV.CAN]Life Sciences [q-bio]/Cancer; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

Source: ISSN: 2041-1723.

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Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

Authors : Matricardi, Sara; Cestèle, Sandrine; Trivisano, Marina ...

Subjects: SCN1A gene; Gain of Function; Focal Epilepsy

Source: ISSN: 0013-9580.

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Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans

Authors : Uglebjerg, Nicoline; Ahmadizar, Fariba; Aly, Dina M. ...

Subjects: Genetics; CUBN; Cubilin

Source: ISSN: 1664-2392 ; Frontiers in Endocrinology ; https://hal.science/hal-04073024 ; Frontiers in Endocrinology, 2023, 14, pp.1081741. ⟨10.3389/fendo.2023.1081741⟩.

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Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study

Authors : Orsi, Laurent; Margaritte-Jeannin, Patricia; Andrianjafimasy, Miora ...

Subjects: fluorescent oxidation products; oxidative stress; genome-wide association study

Source: ISSN: 2076-3921.

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فلترة النتائج

Association of LIfestyle for BRAin health risk score (LIBRA) and genetic susceptibility with incident dementia and cognitive decline

CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.

Estimation of penetrance in age-dependent genetic disease with sporadic cases from pedigree data ; Estimation de pénétrance de maladies génétiques dépendantes de l'âge et présentant des cas sporadiques à partir de données de pédigrées

Genetic factors for differentiated thyroid cancer in French Polynesia : new candidate loci

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Prader–Willi syndrome: Symptoms and topiramate response in light of genetics

Obesity-associated changes in molecular biology of primary breast cancer

Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans

Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study

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