Publications by authors named "Arjan Bouman"

14Publications

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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November 2020

[Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].

Ned Tijdschr Geneeskd 2018 11 26;162. Epub 2018 Nov 26.

Erasmus MC, afd. Klinische Genetica, Rotterdam.

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November 2018

Bloom syndrome does not always present with sun-sensitive facial erythema.

Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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February 2018

Trisomy 4 mosaicism: Delineation of the phenotype.

Am J Med Genet A 2016 Apr 20;170A(4):1040-5. Epub 2016 Jan 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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April 2016

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Am J Med Genet A 2016 Feb 10;170A(2):504-509. Epub 2015 Nov 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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February 2016

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Am J Med Genet A 2015 Oct 14;167A(10):2376-81. Epub 2015 May 14.

Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.

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October 2015

An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation.

Clin Dysmorphol 2015 Apr;24(2):68-74

aDepartment of Clinical Genetics, AMC Departments of bClinical Genetics cGynaecology, VU University Medical Center, Amsterdam, The Netherlands.

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April 2015

Clinical delineation of a patient with trisomy 12q23q24.

Eur J Med Genet 2013 Aug 10;56(8):463-9. Epub 2013 Jul 10.

Department of Clinical Genetics, AMC, Amsterdam, The Netherlands.

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August 2013