Search Results - "VANTRAPPEN, Greet"
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Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family
Published in Otology & neurotology (01-09-2003)“…To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family. Tertiary referral centers. A multigeneration Belgian family with late-onset…”
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Autosomal dominant isolated velopharyngeal insufficiency
Published in Clinical genetics (01-01-2002)Get full text
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Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome
Published in Prenatal diagnosis (01-01-1998)“…Prenatal diagnosis of the DiGeorge/velo‐cardio‐facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic…”
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Mandibulo-acral dysplasia in a one-year-old boy
Published in Genetic counseling (2000)“…We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short…”
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On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies
Published in Genetic counseling (1999)“…A two-year-old boy with the combination of profound nerve deafness and semilobar holoprosencephaly associated with minor midline developmental anomalies is…”
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Mosaic trisomy 8 as a cause of velopharyngeal insufficiency
Published in American journal of medical genetics (01-04-2002)Get full text
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Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations
Published in Acta oto-rhino-laryngologica Belgica (2003)“…The Velo-Cardio-Facial Syndrome (VCFS), caused by a submicroscopic deletion in the long arm of chromosome 22, has a broad clinical spectrum of ENT…”
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Mosaic trisomy 8 as a cause of velopharyngeal insufficiency
Published in American journal of medical genetics (01-04-2002)Get full text
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Familial deletions of chromosome 22q11: The Leuven experience
Published in American journal of medical genetics (28-12-1998)Get full text
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Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome
Published in American journal of medical genetics (31-10-1997)Get full text
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