J. K. P. Amstel

发表

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

M. Durán, D. Lacombe, J. Sass, 2004, European Journal of Human Genetics.

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

B. Poll-The, J. K. P. Amstel, R. Berger, 2004, Human Genetics.

Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.

L. Vissers, W. D. de Boode, W. Keusters, 2021, European journal of medical genetics.

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

I. Touitou, E. Bakker, M. Kriek, 2008, European Journal of Human Genetics.

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

D. Lindhout, R. Snijder, J. Mager, 2005, Journal of Medical Genetics.

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

R. Wevers, R. Salvayre, T. Levade, 1996, Journal of medical genetics.

SMAD4 mutations found in unselected HHT patients

R. Pyeritz, A. Ganguly, D. Marchuk, 2006, Journal of Medical Genetics.

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

B. Mulder, V. Vorselaars, M. Post, 2017, International journal of cardiology.

Prenatal diagnosis of type I hereditary tyrosinaemia

R. Berger, J. K. P. Amstel, M. Verjaal, 1994, The Lancet.