B. D. Chiaie

发表

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

Redefining the MED13L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015, European Journal of Human Genetics.

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

K. Buysse, F. Speleman, B. Menten, 2009, BMC Medical Genetics.

Adults with Down syndrome - health/care considerations for health professionals

G. Buggenhout, B. Poppe, B. Callewaert, 2012 .

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Gabrielle M. Christenhusz, K. Devriendt, B. Menten, 2013, Genetics in Medicine.

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.