L van Maldergem - JoVE Visualize

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European Journal of Human Genetics : EJHG|February 15, 2001

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?A Verloes, Y Gillerot, L Van Maldergem, et al.

Molecular Genetics and Metabolism|April 18, 2018

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndromeV Th Ramaekers, K Segers, J M Sequeira, et al.

Clinical Genetics|August 16, 2003

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4M A Shaw, N Brunetti-Pierri, L Kádasi, et al.

Angiology|July 22, 1998

Cerebral venous thrombosis and procoagulant factors--a case studyP Lefebvre, B Lierneux, L Lenaerts, et al.

Neuropediatrics|August 18, 2001

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyT J de Koning, J Jaeken, M Pineda, et al.

Neuromuscular Disorders : NMD|January 1, 1992

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidationL Van Maldergem, M Espeel, R J Wanders, et al.

American Journal of Medical Genetics|April 15, 1993

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable typesA Verloes, H Journel, C Elmer, et al.

Journal of Inherited Metabolic Disease|July 18, 2002

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acidsT J De Koning, M Duran, L Van Maldergem, et al.

Journal of Inherited Metabolic Disease|May 20, 2005

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease typeL Van Maldergem, A B Moser, M-F Vincent, et al.

Nature Genetics|January 23, 1999

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeP B Munroe, R O Olgunturk, J P Fryns, et al.

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Showing results (41-50 of 91) with videos related to

Sort By:

Pageof 10

European Journal of Human Genetics : EJHG|February 15, 2001

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?A Verloes, Y Gillerot, L Van Maldergem, et al.

Molecular Genetics and Metabolism|April 18, 2018

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndromeV Th Ramaekers, K Segers, J M Sequeira, et al.

Clinical Genetics|August 16, 2003

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4M A Shaw, N Brunetti-Pierri, L Kádasi, et al.

Angiology|July 22, 1998

Cerebral venous thrombosis and procoagulant factors--a case studyP Lefebvre, B Lierneux, L Lenaerts, et al.

Neuropediatrics|August 18, 2001

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyT J de Koning, J Jaeken, M Pineda, et al.

Neuromuscular Disorders : NMD|January 1, 1992

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidationL Van Maldergem, M Espeel, R J Wanders, et al.

American Journal of Medical Genetics|April 15, 1993

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable typesA Verloes, H Journel, C Elmer, et al.

Journal of Inherited Metabolic Disease|July 18, 2002

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acidsT J De Koning, M Duran, L Van Maldergem, et al.

Journal of Inherited Metabolic Disease|May 20, 2005

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease typeL Van Maldergem, A B Moser, M-F Vincent, et al.

Nature Genetics|January 23, 1999

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeP B Munroe, R O Olgunturk, J P Fryns, et al.

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