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Academic Journal

Microstructural white matter integrity in relation to vascular reactivity in Dutch-type hereditary cerebral amyloid angiopathy

Subjects: Humans; Adult; Cerebral Amyloid Angiopathy

  • Source: Schipper , M R , Vlegels , N , van Harten , T W , Rasing , I , Koemans , E A , Voigt , S , Luca , A D , Kaushik , K , van Etten , E S , van Zwet , E W , Terwindt , G M , Biessels , G J , van Osch , M

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Academic Journal

Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma

Subjects: familial multiple myeloma; MAPK pathway; non-coding genome

  • Source: Niazi , Y , Paramasivam , N , Blocka , J , Kumar , A , Huhn , S , Schlesner , M , Weinhold , N , Sijmons , R , De Jong , M , Durie , B , Goldschmidt , H , Hemminki , K & Försti , A 2023 , '

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Academic Journal

Dysregulation of miRNA-30e-3p targeting IL-1β in an international cohort of systemic autoinflammatory disease patients

Subjects: Familial Mediterranean fever; IL-1β; Inflammation

  • Source: Akbaba , T H , Akkaya-Ulum , Y Z , Batu , E D , Penco , F , Wittkowski , H , Kant , B , van Gijn , M E , Foell , D , Gattorno , M , Ozen , S & Balci-Peynircioglu , B 2023 , ' Dysregulation of

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Academic Journal

Hemodynamic Effects of a High-Frequency Oscillatory Ventilation Open-Lung Strategy in Critically Ill Children With Acquired or Congenital Cardiac Disease

Subjects: Humans; Child; Adolescent

  • Source: de Jager , P , Curley , M A Q , Cheifetz , I M & Kneyber , M C J 2023 , ' Hemodynamic Effects of a High-Frequency Oscillatory Ventilation Open-Lung Strategy in Critically Ill Children With Acquired or

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Academic Journal

The relation between C-reactive protein and serum amyloid A in patients with autoinflammatory diseases

Subjects: Acute-phase proteins; Amyloidosis; C-reactive protein

  • Source: Legger , G E , Dermer , C W E , Brunger , A F , van Daele , P L A & Nienhuis , H L A 2022 , ' The relation between C-reactive protein and serum amyloid A in patients with autoinflammatory diseases ' ,

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Academic Journal

Effect of stressful life events on subclinical psychotic symptoms in first-degree relatives and healthy controls

Subjects: Familial vulnerability; Life events; Psychosis risk

  • Source: GROUP Investigators are: , Lachowicz , A M , Vaessen , T , van Aubel , E , Butjosa , A , Reininghaus , U , Myin-Germeys , I , van Amelsvoort , T , Bartels-Velthuis , A A , Bruggeman , R , Cahn , W ,

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Academic Journal

The spectrum of Progressive Familial Intrahepatic Cholestasis diseases:Update on pathophysiology and emerging treatments

Subjects: FIC1 deficiency; BSEP deficiency; MDR3 deficiency

  • Source: Felzen , A & Verkade , H J 2021 , ' The spectrum of Progressive Familial Intrahepatic Cholestasis diseases : Update on pathophysiology and emerging treatments ' ,

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Academic Journal

Adiposity and the development of dyslipidemia in APOE epsilon 2 homozygous subjects:A longitudinal analysis in two population-based cohorts

Subjects: APOE genotype; Familial dysbetalipoproteinemia; Lipids

  • Source: Heidemann , B E , Wolters , F J , Kavousi , M , Gruppen , E G , Dullaart , R P F , Marais , A D , Visseren , F L J & Koopal , C 2021 , ' Adiposity and the development of dyslipidemia in APOE epsilon 2

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Academic Journal

Myoclonus-Ataxia Syndromes:A Diagnostic Approach

Subjects: genetics; myoclonus; ataxia

  • Source: Rossi , M , Veen, van der , S , Merello , M , de Koning-Tijssen , M A J & van de Warrenburg , B 2021 , ' Myoclonus-Ataxia Syndromes : A Diagnostic Approach ' , Movement Disorders Clinical Practice ,

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Academic Journal

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Subjects: ARID1B; Coffin-Siris syndrome; ACMG guidelines

  • Source: van der Sluijs , P J , Alders , M , Dingemans , A J M , Parbhoo , K , van Bon , B W , Dempsey , J C , Doherty , D , den Dunnen , J T , Gerkes , E H , Milller , I M , Moortgat , S , Regier , D S ,

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