BARBARA DELLE CHIAIE

Journal Article
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open access

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien Baetens, Wilhelm Mladenov, BARBARA DELLE CHIAIE (UGent) , Björn Menten (UGent) , An Desloovere (UGent) , Violeta Iotova, Bert Callewaert (UGent) , Erik Van Laecke (UGent) , Piet Hoebeke (UGent) , Elfride De Baere (UGent) , et al.

(2014) ORPHANET JOURNAL OF RARE DISEASES. 9.

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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

Paul Daniel Brady, BARBARA DELLE CHIAIE (UGent) , Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Björn Menten (UGent) , Sandra Janssens (UGent) , Paul Defoort (UGent) , Ellen Roets (UGent) , Elke Sleurs (UGent) , et al.

(2014) GENETICS IN MEDICINE. 16(6). p.469-476

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Health problems in children with Down syndrome

M Wojciechowski, C Francke, M Kluiver, T Boiy, Bert Callewaert (UGent) , BARBARA DELLE CHIAIE (UGent) , G Dembour, M De Rademaeker, A Jansen, S Kenis, et al.

(2012) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE. 14(2). p.14-18

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Gastrointestinal problems in children with Down syndrome

ELLEN MARIS (UGent) , Myriam Van Winckel (UGent) , Els Van De Vijver, Bruno Hauser, Bert Callewaert (UGent) , Ilse Hoffman and BARBARA DELLE CHIAIE (UGent)

(2012) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE. 14(2). p.36-39

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

BARBARA DELLE CHIAIE (UGent) , S Van den Braembussche, C Elsing, S van den Ent, Roos Leroy (UGent) , Bert Callewaert (UGent) , M Wojciechowski, Bruce Poppe (UGent) , G Van Buggenhout and G Van Goethem

(2012) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE. 14(2). p.56-61

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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Peter M Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E Holder, Geert R Mortier, BARBARA DELLE CHIAIE (UGent) , Elfride De Baere (UGent) , Miles D Thompson, Tony Roscioli, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(1). p.146-151

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

Sarah Vergult (UGent) , Andrew Dauber, BARBARA DELLE CHIAIE (UGent) , Elke Van Oudenhove (UGent) , Marleen Simon, Ali Rihani (UGent) , Bart Loeys (UGent) , Joel Hirschhorn, Jean Pfotenhauer, John A Phillips, et al.

(2012) EUROPEAN JOURNAL OF HUMAN GENETICS. 20(5). p.534-539

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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah Vergult (UGent) , Karen Buysse (UGent) , BARBARA DELLE CHIAIE (UGent) , Sandra Janssens (UGent) , Olivier Vanakker (UGent) , Rudy Van Coster (UGent) , Anne De Paepe (UGent) , Franki Speleman (UGent) and Björn Menten (UGent)

(2011) European Cytogenetics conference, 8th, Abstracts.

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Klinische en genetische aspecten van het syndroom van Turner

BARBARA DELLE CHIAIE (UGent) , Björn Menten (UGent) , Anne De Paepe (UGent) , Jean De Schepper (UGent) and Sandra Janssens (UGent)

(2011) TIJDSCHRIFT VOOR GENEESKUNDE. 67(11). p.532-538

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Preconceptueel en prenataal genetisch advies

BARBARA DELLE CHIAIE (UGent) , Björn Menten (UGent) , Anne De Paepe (UGent) and Sandra Janssens (UGent)

(2010) TIJDSCHRIFT VOOR GENEESKUNDE. 66(21). p.1002-1007

Academic Bibliography

BARBARA DELLE CHIAIE

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

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

Health problems in children with Down syndrome

Gastrointestinal problems in children with Down syndrome

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

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

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

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Klinische en genetische aspecten van het syndroom van Turner

Preconceptueel en prenataal genetisch advies

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