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Une cause congénitale de douleur dans le dos et dans les jambes
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Aangeboren oorzaak van pijn in de rug en benen
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Identification of a novel COL1A1 mutation associated with Caffey disease
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Stickler syndrome: comprehensive clinical and molecular analysis
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Focal growth disturbances
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Klippel-Feil syndrome
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Disfluency: it is not always stuttering
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Stem bij patiënten met neurofibromatose type 1
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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- Journal Article
- A1
- open access
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
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Morquio type B syndrome
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
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Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
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Nasal speech in patients with 12q15 microdeletions
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Vertonen neurofibromatose type 1-patiënten een herkenbaar spraakpatroon?
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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Maroteaux-Lamy syndrome
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Articulation in schoolchildren and adults with neurofibromatosis type 1
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Voice-related quality of life in adults with neurofibromatosis type 1
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Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Spraak bij patiënten met neurofibromatosis type 1
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Broddelen bij patiënten met neurofibromatose type 1
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- Conference Paper
- C3
- open access
Articulation skills of Flemish patients with neurofibromatosis type 1
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- Conference Paper
- C3
- open access
Objective assessment of nasality in Flemish adults with neurofibromatosis type 1
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- Conference Paper
- C3
- open access
Voice-related quality of life in adults with neurofibromatosis type 1
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Objective assessment of nasality in Flemish adults with neurofibromatosis type 1
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome
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Genotype-phenotype analysis of the branchio-oculo-facial syndrome
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Voice characteristics in adults with neurofibromatosis type 1
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Intragenic deletion of the AUTS2 gene in patients with mental retardation, autistic behaviour and dysmorphic features : a new microdeletion syndrome
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Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay
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Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay
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Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay
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Temple-Baraitser syndrome: a rare and possibly unrecognized condition
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- Conference Paper
- C3
- open access
Voice-related quality of life in adults with neurofibromatosis type 1
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Word-final prolongations in an adult male with neurofibromatosis type 1
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- Conference Paper
- C3
- open access
Voice characteristics in adults with neurofibromatosis type 1
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IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign
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Toepassing van microarray-analyse in de genetische diagnostiek
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Haploinsufficiency of TAB2 causes congenital heart defects in humans
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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
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- Journal Article
- A1
- open access
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
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- Journal Article
- A1
- open access
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
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Word-final prolongations in an adult male with neurofibromatosis type 1
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome
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Speech fluency in neurofibromatosis type 1
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Speech disorders in neurofibromatosis type 1: a sample survey
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Myhre syndrome: in search of the causal gene
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Myhre syndrome: in search of the causal gene
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Speech fluency in neurofibromatosis type 1
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Genetisch onderzoek bij aandoeningen van de geslachtsontwikkeling: meer dan louter het bepalen van het karyotype
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Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)
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Identification of CANT1 Mutations in Desbuquois Dysplasia
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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course
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- Journal Article
- A1
- open access
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
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Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans
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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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- Journal Article
- A1
- open access
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
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Unusual 8p inverted duplication deletion with telomere capture from 8q
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Whole body MR imaging in neurofibromatosis type 1
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The heterozygous Lemd3 knock-out mouse: a murine model for osteopoikilosis in humans?
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PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)
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Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene
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IHH and acrocapitofemoral dysplasia and brachydactyly A1
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LEDMD3 and osteopoikilosis, the Buschke-Ollendorf syndrome and melorheostosis
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Further evidence for a recessive form of SEMD resembling pseudoachondroplasia in a consanguineous family of Maghrebian origin
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Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene
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Mutations in the cyclin family member FAM58A cause a novel X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital and renal malformations (STAR syndrome)
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Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten bij kinderen met mentale retardatie en aangeboren afwijkingen
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
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High prevalence of SDHB mutations in head and neck paraganglioma in Belgium
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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
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Short stature syndromes
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Belang van het Guthriekaartje bij de laattijdige diagnose van een congenitale cytomegalovirusinfectie
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Syndactylie van de tweede en derde teen: een onschuldig familiaal trekje ?
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RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements
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A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome
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Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
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Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
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Czech dysplasia metatarsal type: another type II collagen disorder
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Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation