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  • 1-10 ل  20 نتائج ل ""Radboud University Medical Center""

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Collection : Normandie Universite
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Academic Journal

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Subjects: Adult; ARID1B; Coffin–Siris syndrome

  • Source: ISSN: 2949-7744 ; Genetics in Medicine Open ; https://univ-rennes.hal.science/hal-04782930 ; Genetics in Medicine Open, 2024, 2, pp.101873. ⟨10.1016/j.gimo.2024.101873⟩.

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Academic Journal

Undergraduate occupational medicine education in European Medical Schools: better training to meet today’s challenges

Subjects: Medical education; Undergraduate teaching; Occupational medicine

  • Source: ISSN: 1472-6920 ; BMC Medical Education ; https://hal.science/hal-04733647 ; BMC Medical Education, 2024, 24 (1), pp.846.

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Academic Journal

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Subjects: ERN; Gene curation; ISSVA

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04586607 ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.213. ⟨10.1186/s13023-024-03196-9⟩.

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Academic Journal

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

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

  • Source: ISSN: 1018-4813.

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Academic Journal

Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer's disease: An international overview

Subjects: Alzheimer’s disease; cerebrospinal fluid biomarkers; clinical report

  • Source: ISSN: 1552-5260 ; EISSN: 1552-5279.

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Academic Journal

High-risk stage IIB Hodgkin lymphoma treated in the H10 and AHL2011 trials: TMTV is a useful risk factor to stratify patients at baseline.

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

  • Source: ISSN: 0390-6078.

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Academic Journal

Age-related changes in fast spindle clustering during non-rapid eye movement sleep and their relevance for memory consolidation

Subjects: Sleep; sleep spindles; ageing

  • Source: ISSN: 0161-8105.

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Academic Journal

Amikacin Liposomal Inhalation Suspension in the Treatment of Mycobacterium abscessus Lung Infection: A French Observational Experience

Subjects: Amikacin liposomal inhalation suspension; Cystic fibrosis; Mycobacterium abscessus

  • Source: ISSN: 2328-8957.

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Academic Journal

Standards in semen examination: publishing reproducible and reliable data based on high-quality methodology

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

  • Source: ISSN: 0268-1161.

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Academic Journal

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency

Subjects: homocystinuria; MTHFR deficiency; neurodevelopmental outcome

  • Source: ISSN: 0141-8955.

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  • 1-10 ل  20 نتائج ل ""Radboud University Medical Center""