Hester Y Kroes

Hester Y Kroes

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Hester Y Kroes

Hester Y Kroes

Publications by authors named "Hester Y Kroes"

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41Publications

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

Clin Dysmorphol 2011 Jul;20(3):136-42

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283472507DOI Listing
July 2011

Disclosure of individual genetic data to research participants: the debate reconsidered.

Trends Genet 2011 Feb 27;27(2):41-7. Epub 2010 Dec 27.

University Medical Center Utrecht, Julius Center for Health Sciences and Primary Care, Department of Medical Ethics, Stratenum 6.131, PO Box 85500, 3508 GA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.tig.2010.11.004DOI Listing
February 2011

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Ophthalmology 2011 Jan;118(1):160-167.e1-3

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2010.04.022DOI Listing
January 2011

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Int J Pediatr Otorhinolaryngol 2010 Sep 29;74(9):1034-8. Epub 2010 Jun 29.

Dept. of Medical Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2010.05.034DOI Listing
September 2010

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.

Eur J Med Genet 2008 Nov-Dec;51(6):689-90. Epub 2008 Jul 16.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.001DOI Listing
March 2009

Yield of additional metabolic studies in neurodevelopmental disorders.

Ann Neurol 2008 Aug;64(2):212-7

Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ana.21435DOI Listing
August 2008

Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.

Am J Med Genet A 2004 Jun;127A(2):172-82

Department of Clinical Genetics, University Hospital Groningen, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20645DOI Listing
June 2004

Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

Epilepsia 2002 Aug;43(8):929-31

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1046/j.1528-1157.2002.26601.xDOI Listing
August 2002