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H Scheffer

Showing results (31-40 of 154) with videos related to

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Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 6, 2000
Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathyE B Haagsma, H Scheffer, K Altland, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
The EUROGEM map of human chromosome 13R F Kooy, A Wijngaard, E Verlind, et al.
Neuropediatrics|March 12, 2010
Autosomal recessive inheritance of GLUT1 deficiency syndromeJ Klepper, H Scheffer, M F Elsaid, et al.
Annals of Hepatology|September 6, 2007
Evaluation of gallbladder motility: comparison of two-dimensional and three-dimensional ultrasonographySusanne Stads, Niels G Venneman, Robert C H Scheffer, et al.
American Journal of Medical Genetics|April 23, 1999
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotypeM J Berends, R Hordijk, H Scheffer, et al.
Human Genetics|May 1, 1995
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WNDR F Kooy, E Verlind, A Wijngaard, et al.
Journal of Science and Medicine in Sport|October 6, 2023
Prevalence of low energy availability in 25 New Zealand elite female rowers - A cross sectional studyJudikje H Scheffer, Christel A E Dunshea-Mooij, Stuart Armstrong, et al.
Human Genetics|July 8, 1998
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small countryJ M Collée, H G de Vries, H Scheffer, et al.
The British Journal of Dermatology|August 13, 2014
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosaP C van den Akker, A M G Pasmooij, R Meijer, et al.
Human Genetics|October 1, 1990
Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14R H Houwen, H Scheffer, G J te Meerman, et al.
Pageof 16

Showing results (31-40 of 154) with videos related to

Sort By:
Pageof 16
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 6, 2000
Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathyE B Haagsma, H Scheffer, K Altland, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
The EUROGEM map of human chromosome 13R F Kooy, A Wijngaard, E Verlind, et al.
Neuropediatrics|March 12, 2010
Autosomal recessive inheritance of GLUT1 deficiency syndromeJ Klepper, H Scheffer, M F Elsaid, et al.
Annals of Hepatology|September 6, 2007
Evaluation of gallbladder motility: comparison of two-dimensional and three-dimensional ultrasonographySusanne Stads, Niels G Venneman, Robert C H Scheffer, et al.
American Journal of Medical Genetics|April 23, 1999
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotypeM J Berends, R Hordijk, H Scheffer, et al.
Human Genetics|May 1, 1995
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WNDR F Kooy, E Verlind, A Wijngaard, et al.
Journal of Science and Medicine in Sport|October 6, 2023
Prevalence of low energy availability in 25 New Zealand elite female rowers - A cross sectional studyJudikje H Scheffer, Christel A E Dunshea-Mooij, Stuart Armstrong, et al.
Human Genetics|July 8, 1998
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small countryJ M Collée, H G de Vries, H Scheffer, et al.
The British Journal of Dermatology|August 13, 2014
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosaP C van den Akker, A M G Pasmooij, R Meijer, et al.
Human Genetics|October 1, 1990
Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14R H Houwen, H Scheffer, G J te Meerman, et al.
Pageof 16