False positive results with the qualitative amniotic fluid acetylcholinesterase test

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

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Clinical genetics·2015

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

International journal of epidemiology·2011

Robotic-arm-assisted versus conventional total knee replacement (RACER-Knee): a pragmatic, multicentre, participant-masked and assessor-masked, superiority, randomised controlled trial.

Lancet (London, England)·2026

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Lancet (London, England)·2026

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Cell chemical biology·2026

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Laboratory medicine·2026

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False positive results with the qualitative amniotic fluid acetylcholinesterase test

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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

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