L van Maldergem - JoVE Visualize

Showing results (21-30 of 91) with videos related to

Pageof 10

Sort By:

Clinical Genetics|June 1, 1994

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defectsA Biver, S De Rijcke, V Toppet, et al.

Journal of Inherited Metabolic Disease|August 11, 2004

Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry diseaseF Dehout, D Roland, S Treille de Granseigne, et al.

Genetic Counseling (Geneva, Switzerland)|January 1, 1991

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalitiesL Van Maldergem, F Avni, B Mossay, et al.

Journal of Medical Genetics|July 1, 1990

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvementA Verloes, L Van Maldergem, P de Marneffe, et al.

Acta Paediatrica (Oslo, Norway : 1992)|April 1, 1992

Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndromeL Van Maldergem, Y Gillerot, E Vamos, et al.

European Journal of Human Genetics : EJHG|May 1, 1997

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chainL Nuytinck, K Wettinck, M Freund, et al.

The Journal of Laryngology and Otology|November 28, 2006

Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueductI Courtmans, V Mancilla, C Ligny, et al.

Biochimie|January 1, 1993

Human liver pathology in peroxisomal diseases: a review including novel dataF Roels, M Espeel, F Poggi, et al.

Archives of Disease in Childhood|June 1, 1996

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesisJ Jaeken, M Detheux, L Van Maldergem, et al.

European Journal of Nuclear Medicine|January 1, 1989

Per rectal thallium scintigraphy for the assessment of portosystemic shunt: an experimental study in the bile duct ligated ratsL Van Maldergem, O Jeghers, G Cadiere, et al.

Pageof 10

Showing results (21-30 of 91) with videos related to

Sort By:

Pageof 10

Clinical Genetics|June 1, 1994

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defectsA Biver, S De Rijcke, V Toppet, et al.

Journal of Inherited Metabolic Disease|August 11, 2004

Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry diseaseF Dehout, D Roland, S Treille de Granseigne, et al.

Genetic Counseling (Geneva, Switzerland)|January 1, 1991

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalitiesL Van Maldergem, F Avni, B Mossay, et al.

Journal of Medical Genetics|July 1, 1990

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvementA Verloes, L Van Maldergem, P de Marneffe, et al.

Acta Paediatrica (Oslo, Norway : 1992)|April 1, 1992

Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndromeL Van Maldergem, Y Gillerot, E Vamos, et al.

European Journal of Human Genetics : EJHG|May 1, 1997

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chainL Nuytinck, K Wettinck, M Freund, et al.

The Journal of Laryngology and Otology|November 28, 2006

Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueductI Courtmans, V Mancilla, C Ligny, et al.

Biochimie|January 1, 1993

Human liver pathology in peroxisomal diseases: a review including novel dataF Roels, M Espeel, F Poggi, et al.

Archives of Disease in Childhood|June 1, 1996

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesisJ Jaeken, M Detheux, L Van Maldergem, et al.

European Journal of Nuclear Medicine|January 1, 1989

Per rectal thallium scintigraphy for the assessment of portosystemic shunt: an experimental study in the bile duct ligated ratsL Van Maldergem, O Jeghers, G Cadiere, et al.

Pageof 10