Academic Bibliography

Search 200 years of publications by Ghent University researchers.

prof. dr. Bert Callewaert

Work address: C. Heymanslaan 10, ingang 81 - gelijkvloers
9000 Gent
Email: BERT.CALLEWAERT@UGent.be
ORCID iD: 0000-0002-9743-4205

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- Journal Article
- open access
Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea: a case report of a 17-year-old patient and literature review

Ellen Deolet (UGent) , Bert Callewaert (UGent) , Jeroen Geldof (UGent) , Stephanie Van Biervliet (UGent) , Saskia Vande Velde (UGent) , Jo Van Dorpe (UGent) , Myriam Van Winckel (UGent) and Anne Hoorens (UGent)

(2022) Virchows Archiv.
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenens (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) , Annelies Dheedene (UGent) , R. Frank Kooy and Bert Callewaert (UGent)

(2022) GENES. 13(4).
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, et al.

(2022) HUMAN MUTATION. 43(5). p.582-594
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- Journal Article
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Gerarda Cappuccio, Nicola Brunetti‐Pierri, Paul Clift, Christopher Learn, John C. Dykes, Catherine L. Mercer, Bert Callewaert (UGent) , Ilse Meerschaut (UGent) , Alessandro Mauro Spinelli, Irene Bruno, et al.

(2022) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 188(5). p.1384-1395
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- Book Chapter
- open access
LTBP4-related cutis laxa

Bert Callewaert (UGent) and Zsolt Urban

(2022) Gene reviews.
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.

(2022) HUMAN GENETICS. 141(1). p.65-80
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. Shenoy, Vikram Shetty, Annelies Dheedene (UGent) , Björn Menten (UGent) , Dechamma Pandyanda Nanjappa, Gunimala Chakraborty, Patrick Sips (UGent) , Anne De Paepe (UGent) , Bert Callewaert (UGent) and Anirban Chakraborty

(2022) CLEFT PALATE-CRANIOFACIAL JOURNAL.
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies Colman (UGent) , Machteld Baetens (UGent) , Olivier Vanakker (UGent) , Bert Callewaert (UGent) , Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2021) BESHG conference 2021, Abstracts.
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- Journal Article
- open access
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia Micale, Silvia Morlino, Annalucia Carbone, Annamaria Carissimo, Grazia Nardella, Carmela Fusco, Orazio Palumbo, Annalisa Schirizzi, Federica Russo, Gianluigi Mazzoccoli, et al.

(2021) Genetics in Medicine. p.439-453

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