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L Spruijt

Showing results (1-10 of 14) with videos related to

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Genetic Counseling (Geneva, Switzerland)|January 5, 2001
An adult patient with a distal interstitial 14q deletion: clinical report and literature reviewL Spruijt, M Van Der Blij-Philipsen, J J Engelen, et al.
Journal of Medical Genetics|April 3, 2007
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseM J Blok, L Spruijt, I F M de Coo, et al.
Muscle & Nerve|June 19, 2001
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetateL Spruijt, R K Naviaux, K A McGowan, et al.
Genetic Counseling (Geneva, Switzerland)|April 16, 2004
A patient with a de novo 11q24.2-->qter deletionL Spruijt, J P Fryns, J Hanekom, et al.
Nederlands Tijdschrift Voor Geneeskunde|April 12, 2008
[Two neonates with congenital aniridia: the necessity of genetic investigation]E van Os, H J Niemarkt, M J T Verreussel, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irisesL Spruijt, J J M Engelen, I P Bruinen-Smeijsters, et al.
American Journal of Medical Genetics. Part A|November 20, 2004
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel, L Spruijt, I van der Burgt, et al.
Journal of Immunological Methods|August 21, 2007
A simplified and reliable assay for complex I in human blood lymphocytesL E A de Wit, L Spruijt, G C Schoonderwoerd, et al.
European Journal of Ophthalmology|March 6, 2008
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?A Nemes, I F M De Coo, L Spruijt, et al.
European Journal of Cancer (Oxford, England : 1990)|January 29, 2011
Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndromeP Manders, L Spruijt, C M Kets, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Genetic Counseling (Geneva, Switzerland)|January 5, 2001
An adult patient with a distal interstitial 14q deletion: clinical report and literature reviewL Spruijt, M Van Der Blij-Philipsen, J J Engelen, et al.
Journal of Medical Genetics|April 3, 2007
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseM J Blok, L Spruijt, I F M de Coo, et al.
Muscle & Nerve|June 19, 2001
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetateL Spruijt, R K Naviaux, K A McGowan, et al.
Genetic Counseling (Geneva, Switzerland)|April 16, 2004
A patient with a de novo 11q24.2-->qter deletionL Spruijt, J P Fryns, J Hanekom, et al.
Nederlands Tijdschrift Voor Geneeskunde|April 12, 2008
[Two neonates with congenital aniridia: the necessity of genetic investigation]E van Os, H J Niemarkt, M J T Verreussel, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irisesL Spruijt, J J M Engelen, I P Bruinen-Smeijsters, et al.
American Journal of Medical Genetics. Part A|November 20, 2004
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel, L Spruijt, I van der Burgt, et al.
Journal of Immunological Methods|August 21, 2007
A simplified and reliable assay for complex I in human blood lymphocytesL E A de Wit, L Spruijt, G C Schoonderwoerd, et al.
European Journal of Ophthalmology|March 6, 2008
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?A Nemes, I F M De Coo, L Spruijt, et al.
European Journal of Cancer (Oxford, England : 1990)|January 29, 2011
Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndromeP Manders, L Spruijt, C M Kets, et al.
Pageof 2