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L Van Maldergem

Showing results (31-40 of 114) with videos related to

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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.
Journal of Medical Genetics|October 4, 2002
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephalyS Andries, D Sartenaer, K Rack, 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.
European Journal of Medical Genetics|December 2, 2008
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutationB Friguls, W Coroleu, R del Alcazar, et al.
The Journal of Clinical Investigation|January 15, 1997
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsivenessP J Malloy, T R Eccleshall, C Gross, et al.
Journal of Medical Genetics|February 1, 1993
Brachymorphism-onychodysplasia-dysphalangism syndromeA Verloes, D Bonneau, O Guidi, et al.
Pageof 12

Showing results (31-40 of 114) with videos related to

Sort By:
Pageof 12
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.
Journal of Medical Genetics|October 4, 2002
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephalyS Andries, D Sartenaer, K Rack, 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.
European Journal of Medical Genetics|December 2, 2008
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutationB Friguls, W Coroleu, R del Alcazar, et al.
The Journal of Clinical Investigation|January 15, 1997
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsivenessP J Malloy, T R Eccleshall, C Gross, et al.
Journal of Medical Genetics|February 1, 1993
Brachymorphism-onychodysplasia-dysphalangism syndromeA Verloes, D Bonneau, O Guidi, et al.
Pageof 12