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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 GENE
Jan 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 gene
Joke 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 elongation
Christine 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 disease
Maria 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 folds
Rosemarie 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 dysplasia
Annemarie 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 mutations
Christine 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 mechanism
Anneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 39) with videos related to
Sort By:
Page
of 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 GENE
Jan 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 gene
Joke 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 elongation
Christine 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 disease
Maria 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 folds
Rosemarie 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 dysplasia
Annemarie 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 mutations
Christine 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 mechanism
Anneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
Page
of 4