L. Standaert

发表

Cohen syndrome: the clinical symptoms and stigmata at a young age

K. Devriendt, J. Fryns, E. Legius, 1996 .

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis.

F. Meire, J. de Laey, L. Standaert, 1987, American journal of medical genetics.

Waardenburg syndrome

F. Meire, J. de Laey, L. Standaert, 2020, Definitions.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q

L. Farrer, C. Baldwin, A. Read, 2022 .

Otological Manifestations of Charge Association

G. Mortier, P. Govaert, I. Dhooge, 1998, The Annals of otology, rhinology, and laryngology.

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

K. Devriendt, J. Fryns, H. Devlieger, 1998, Journal of medical genetics.

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study.

C. Cremers, Shrawan Kumar, J. Casselman, 2001, International journal of pediatric otorhinolaryngology.

Selecting neonates with congenital cytomegalovirus infection for ganciclovir therapy

I. Dhooge, A. Boudewyns, S. Laroche, 2006, European Journal of Pediatrics.

De novo Robertsonian D/D type translocations: the Leuven experience

H. Berghe, J. Fryns, A. Kleczkowska, 1989, Clinical genetics.

Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations

C. Cremers, E. van Wijk, H. Kremer, 2004, The Annals of otology, rhinology, and laryngology.

De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).

P. de Cock, J. Fryns, H. van den Berghe, 1980, Annales de genetique.