Mariken Ruiter

发表

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

J. Schuurs-Hoeijmakers, B. D. de Vries, F. Riemslag, 2014, JAMA ophthalmology.

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder

R. Pfundt, S. Ricciardi, C. Cafiero, 2014, Epilepsia.

Central 22q11.2 deletions

N. de Leeuw, W. Reardon, D. Lev, 2014, American journal of medical genetics. Part A.

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

B. V. van Bon, N. de Leeuw, B. D. de Vries, 2013, Human molecular genetics.

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

R. Pfundt, N. de Leeuw, B. D. de Vries, 2006, Clinical dysmorphology.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder

C. I. Zeeuw, F. Grosveld, A. Karis, 2004, Neurobiology of Disease.

Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies

R. Pfundt, B. D. de Vries, E. Sistermans, 2010, Journal of Pediatric Neurology.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.