S. Frints

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

X‐linked mental retardation: vanishing boundaries between non‐specific (MRX) and syndromic (MRXS) forms

P. Marynen, S. Frints, J. Fryns, 2002, Clinical genetics.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

B. D. de Vries, J. Veltman, H. Bokhoven, 2005, Journal of Medical Genetics.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

Adducted thumbs: a clinical clue to genetic diagnosis.

J. Schrander, A. Stegmann, Y. Vos, 2013, European journal of medical genetics.