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Joke B G M Verheij

Showing results (1-10 of 39) with videos related to

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The Annals of Otology, Rhinology, and Laryngology|May 18, 2005
Hereditary congenital unilateral deafness: a new disorder?Frederik G Dikkers, Joke B G M Verheij, Monique van Mechelen
Retinal Cases & Brief Reports|April 17, 2026
MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENEJan Willem R Pott, E Angela Huiskamp, Joke B G M Verheij
American Journal of Medical Genetics|March 14, 2002
ABCD syndrome is caused by a homozygous mutation in the EDNRB geneJoke B G M Verheij, Jürgen Kunze, Jan Osinga, et al.
Biochimica Et Biophysica Acta|August 19, 2015
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongationChristine S van der Werf, Danny Halim, Joke B G M Verheij, et al.
Plos One|December 29, 2010
Mutations in SCG10 are not involved in Hirschsprung diseaseMaria M M Alves, Jan Osinga, Joke B G M Verheij, et al.
Acta Ophthalmologica|June 8, 2013
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular foldsRosemarie A Wasmann, Jolien S Klein Wassink-Ruiter, Olof H Sundin, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 6, 2006
Clomiphene and hypospadias on a detailed level: signal or chance?Willemijn M Meijer, Lolkje T W de Jong-Van den Berg, Marjan D van den Berg, et al.
European Journal of Human Genetics : EJHG|January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasiaAnnemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutationsChristine S van der Werf, Yunia Sribudiani, Joke B G M Verheij, et al.
European Journal of Human Genetics : EJHG|April 30, 2009
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanismAnneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
The Annals of Otology, Rhinology, and Laryngology|May 18, 2005
Hereditary congenital unilateral deafness: a new disorder?Frederik G Dikkers, Joke B G M Verheij, Monique van Mechelen
Retinal Cases & Brief Reports|April 17, 2026
MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENEJan Willem R Pott, E Angela Huiskamp, Joke B G M Verheij
American Journal of Medical Genetics|March 14, 2002
ABCD syndrome is caused by a homozygous mutation in the EDNRB geneJoke B G M Verheij, Jürgen Kunze, Jan Osinga, et al.
Biochimica Et Biophysica Acta|August 19, 2015
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongationChristine S van der Werf, Danny Halim, Joke B G M Verheij, et al.
Plos One|December 29, 2010
Mutations in SCG10 are not involved in Hirschsprung diseaseMaria M M Alves, Jan Osinga, Joke B G M Verheij, et al.
Acta Ophthalmologica|June 8, 2013
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular foldsRosemarie A Wasmann, Jolien S Klein Wassink-Ruiter, Olof H Sundin, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 6, 2006
Clomiphene and hypospadias on a detailed level: signal or chance?Willemijn M Meijer, Lolkje T W de Jong-Van den Berg, Marjan D van den Berg, et al.
European Journal of Human Genetics : EJHG|January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasiaAnnemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutationsChristine S van der Werf, Yunia Sribudiani, Joke B G M Verheij, et al.
European Journal of Human Genetics : EJHG|April 30, 2009
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanismAnneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
Pageof 4