Ghent University Academic Bibliography

Show Sort by

Your filters: cql: keyword exact "microdeletion syndrome" cql: author exact 001996199776 or (type exact bookEditor and editor exact 001996199776)

Add to list
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott, et al.

(2017) NATURE GENETICS. 49(1). p.36-45
Add to list
- Journal Article
- A1
- open access
Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Sarah Vergult (UGent) , Bart Leroy (UGent) , Ilse Claerhout (UGent) and Björn Menten (UGent)

(2013) MOLECULAR VISION. 19. p.311-318
Add to list
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A van Haeringen, DEF van de Putte, BM Anderlid, J Lundin, P Lapunzina, LAP Jurado, BARBARA DELLE CHIAIE (UGent) , et al.

(2009) EUROPEAN JOURNAL OF MEDICAL GENETICS. 52(2-3). p.77-87
Add to list
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen Buysse (UGent) , BARBARA DELLE CHIAIE (UGent) , Rudy Van Coster (UGent) , Bart Loeys (UGent) , Anne De Paepe (UGent) , Geert Mortier (UGent) , Franki Speleman (UGent) and Björn Menten (UGent)

(2009) EUROPEAN JOURNAL OF MEDICAL GENETICS. 52(6). p.398-403
Add to list
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Karen Buysse (UGent) , Björn Menten (UGent) , Ann Oostra (UGent) , Sylvie Tavernier, Geert Mortier (UGent) and Franki Speleman (UGent)

(2008) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 146A(10). p.1330-1334

Academic Bibliography

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

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

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Contents

Support

Contact