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Anthonie J van Essen

Showing results (1-10 of 38) with videos related to

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European Journal of Medical Genetics|March 4, 2008
Question mark ears and post-auricular tagsErica H Gerkes, Conny M A van Ravenswaaij, Anthonie J van Essen
American Journal of Medical Genetics. Part A|September 10, 2010
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10Eelco Dulfer, Lies H Hoefsloot, Albertus Timmer, et al.
American Journal of Medical Genetics. Part A|August 11, 2005
Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)Renée C Niessen, Marcel F Jonkman, Nies Muis, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomalyPeter C van den Akker, Raoul van de Graaf, Dennis Dooijes, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Unreported manifestations in two Dutch families with Bartsocas-Papas syndromeHermine E Veenstra-Knol, Arianne Kleibeuker, Albertus Timmer, et al.
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.
American Journal of Medical Genetics|September 24, 2002
Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern NetherlandsEwold H Sikkens, Hermien E K de Walle, Jennita Reefhuis, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literatureAmelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literatureEmily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, et al.
American Journal of Medical Genetics. Part A|September 25, 2004
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)Fransiska Malfait, Peter De Coster, Ingrid Hausser, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
European Journal of Medical Genetics|March 4, 2008
Question mark ears and post-auricular tagsErica H Gerkes, Conny M A van Ravenswaaij, Anthonie J van Essen
American Journal of Medical Genetics. Part A|September 10, 2010
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10Eelco Dulfer, Lies H Hoefsloot, Albertus Timmer, et al.
American Journal of Medical Genetics. Part A|August 11, 2005
Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)Renée C Niessen, Marcel F Jonkman, Nies Muis, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomalyPeter C van den Akker, Raoul van de Graaf, Dennis Dooijes, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Unreported manifestations in two Dutch families with Bartsocas-Papas syndromeHermine E Veenstra-Knol, Arianne Kleibeuker, Albertus Timmer, et al.
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.
American Journal of Medical Genetics|September 24, 2002
Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern NetherlandsEwold H Sikkens, Hermien E K de Walle, Jennita Reefhuis, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literatureAmelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literatureEmily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, et al.
American Journal of Medical Genetics. Part A|September 25, 2004
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)Fransiska Malfait, Peter De Coster, Ingrid Hausser, et al.
Pageof 4