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L Nuytinck

Showing results (1-10 of 33) with videos related to

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Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type IL Nuytinck, C Coppin, A De Paepe
Prenatal Diagnosis|October 16, 1999
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testingL Nuytinck, B S Sayli, W Karen, et al.
Fetal Diagnosis and Therapy|July 27, 1999
Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case reportM De Vos, L Nuytinck, C Verellen, et al.
Clinical Dysmorphology|July 1, 1997
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literatureW Courtens, L Nuytinck, C Fricx, et al.
Human Genetics|April 1, 1997
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotesA De Paepe, L Nuytinck, M Raes, et al.
American Journal of Medical Genetics|December 26, 2001
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndromeA Mégarbané, M M Ruchoux, B Loeys, et al.
European Journal of Dermatology : EJD|February 29, 2000
Acrogeria of the Gottron type in a mother and sonM Blaszczyk, A Depaepe, L Nuytinck, et al.
Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.
American Journal of Medical Genetics|January 1, 1993
Osteoporosis-pseudoglioma syndromeA De Paepe, J G Leroy, L Nuytinck, et al.
Archives of Internal Medicine|December 1, 2001
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndromeB Loeys, L Nuytinck, I Delvaux, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type IL Nuytinck, C Coppin, A De Paepe
Prenatal Diagnosis|October 16, 1999
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testingL Nuytinck, B S Sayli, W Karen, et al.
Fetal Diagnosis and Therapy|July 27, 1999
Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case reportM De Vos, L Nuytinck, C Verellen, et al.
Clinical Dysmorphology|July 1, 1997
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literatureW Courtens, L Nuytinck, C Fricx, et al.
Human Genetics|April 1, 1997
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotesA De Paepe, L Nuytinck, M Raes, et al.
American Journal of Medical Genetics|December 26, 2001
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndromeA Mégarbané, M M Ruchoux, B Loeys, et al.
European Journal of Dermatology : EJD|February 29, 2000
Acrogeria of the Gottron type in a mother and sonM Blaszczyk, A Depaepe, L Nuytinck, et al.
Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.
American Journal of Medical Genetics|January 1, 1993
Osteoporosis-pseudoglioma syndromeA De Paepe, J G Leroy, L Nuytinck, et al.
Archives of Internal Medicine|December 1, 2001
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndromeB Loeys, L Nuytinck, I Delvaux, et al.
Pageof 4