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Erica H Gerkes

Showing results (1-10 of 43) 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
Hereditary Cancer in Clinical Practice|September 4, 2009
Familial multiple myeloma: report on two families and discussion of screening optionsErica H Gerkes, Mirjam M de Jong, Rolf H Sijmons, et al.
Journal of Human Genetics|December 13, 2019
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated familiesLeigh A M Demain, Erica H Gerkes, Richard J H Smith, et al.
European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|November 3, 2009
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathiesErica H Gerkes, Anne-Marie F van der Kevie-Kersemaekers, Mariam Yakin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 16, 2019
Variants in nuclear factor I genes influence growth and developmentMartin Zenker, Jens Bunt, Ina Schanze, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reportsAafke Engwerda, Barbara Frentz, A Lya den Ouden, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious <i>PHIP</i> variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
Nature Genetics|June 10, 2022
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningiomaRoodolph St Pierre, Clayton K Collings, Daniel D Samé Guerra, et al.
European Journal of Human Genetics : EJHG|March 12, 2020
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disabilityIris G M Wijnen, Hermine E Veenstra-Knol, Fleur Vansenne, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
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
Hereditary Cancer in Clinical Practice|September 4, 2009
Familial multiple myeloma: report on two families and discussion of screening optionsErica H Gerkes, Mirjam M de Jong, Rolf H Sijmons, et al.
Journal of Human Genetics|December 13, 2019
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated familiesLeigh A M Demain, Erica H Gerkes, Richard J H Smith, et al.
European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|November 3, 2009
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathiesErica H Gerkes, Anne-Marie F van der Kevie-Kersemaekers, Mariam Yakin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 16, 2019
Variants in nuclear factor I genes influence growth and developmentMartin Zenker, Jens Bunt, Ina Schanze, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reportsAafke Engwerda, Barbara Frentz, A Lya den Ouden, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious <i>PHIP</i> variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
Nature Genetics|June 10, 2022
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningiomaRoodolph St Pierre, Clayton K Collings, Daniel D Samé Guerra, et al.
European Journal of Human Genetics : EJHG|March 12, 2020
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disabilityIris G M Wijnen, Hermine E Veenstra-Knol, Fleur Vansenne, et al.
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