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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: a case report
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Klinische genetica, cytogenetica en moleculaire genetica
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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course
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Czech dysplasia metatarsal type: another type II collagen disorder
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Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Klinische genetica, cytogenetica en moleculaire genetica
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Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
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Aminoacylase I deficiency: A novel inborn error of metabolism
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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
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Ataxia oculomotor apraxia I
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Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
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Unfortunate oversight
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Oligosaccharidoses and allied disorders
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Disorders of lysosomal enzymes: clinical phenotypes.
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A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
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Expression of the multidrug transporter P-glycoprotein is highly correlated with clinical outcome in childhood acute lymphoblastic leukemia: Results of a long-term prospective study.
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Dominant inheritance of sialuria, an inborn error of feedback inhibition.
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Imaging studies in the diagnostic workup of neonatal nasal obstruction.
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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
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Lip en/of gehemeltespleet: componenten in een vloeidiagram van multidisciplinaire aanpak
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- Journal Article
- A1
- open access
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
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Articulation in Beckwith-Wiedemann syndrome: Two case studies.
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Pediatrische aanpak bij Groep B streptococcen infecties
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P-Glycoproteine in de aanpak van chemotherapieresistentie.
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Discrepant flow cytometric expression and function of P-glycoprotein in neuroblastic tumors
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
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The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs.
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Macroglossia and speech in Beckwith-Wiedemann syndrome: a sample survey study.
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De genetica in het jaar 2000
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Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.
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Bruck syndrome: neonatal presentation and natural course in three patients.
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MRI findings in a neonate with cerebellar agenesis.
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Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum
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Autopsy diagnosis of the Smith-Lemli-Opitz syndrome
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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: Lack of genotype/phenotype correlations.
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Consensus en controverse rondom groep B streptococcus infectie in de zwangerschap
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Organisation of Medium Level Neonatal Care in Belgium
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Neonatally fatal microcephaly in three sibs
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Genetic counseling as we enter the 21st Century. 8th internat, clinical genetics seminar, Greece (1996)
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Diamanten jubileum: gelegenheid tot nadenken
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Gastro-intestinale problemen bij meervoudig gehandicapte kinderen.
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Is de (kinder)arts hersteld van zijn vigintifobie.