Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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http://www.wikidata.org/entity/Q58695645

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im Oktober 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 June 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

@en

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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P1476

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome

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P2093

C Dordoni

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K Kuzevska-Maneva

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M Colombi

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M Kocova

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M Lazareska

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R Kacarska

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S Prijic

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P2860

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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Measurement of Blood Flow Velocity in the Middle Cerebral Artery During Spontaneous Migraine Attacks: A Systematic Review.

Arterial tortuosity syndrome in two Italian paediatric patients.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene.

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47-52

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scholarly article

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10.2478/BJMG-2018-0009

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P433

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P478

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Marco Ritelli

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2018-06-01T00:00:00Z

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30425910

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6231313

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