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Denise Horn

Showing results (11-20 of 166) with videos related to

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Human Genetics|November 27, 2004
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndromeMaren Runte, Raymonda Varon, Denise Horn, et al.
European Journal of Medical Genetics|August 5, 2008
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contracturesAndreas Busche, Eva Klopocki, Reinhard Ullmann, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrumDenise Horn, Peter Krawitz, Anca Mannhardt, et al.
Interdisciplinary Cardiovascular and Thoracic Surgery|February 21, 2023
Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-upRoland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, et al.
Interactive Cardiovascular and Thoracic Surgery|June 11, 2022
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetusKatharina Schoner, Rainer Bald, Denise Horn, et al.
Human Mutation|February 15, 2012
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbingWenke Seifert, Jirko Kühnisch, Beyhan Tüysüz, et al.
Journal of Clinical Ultrasound : JCU|January 30, 2020
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndromeJudith Altmann, Denise Horn, Dirk Korinth, et al.
BMC Medical Genomics|January 12, 2019
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case reportMagdalena Danyel, Eun Kyung Suk, Vera Raile, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4Pablo Villavicencio-Lorini, Eva Klopocki, Marc Trimborn, et al.
Pageof 17

Showing results (11-20 of 166) with videos related to

Sort By:
Pageof 17
Human Genetics|November 27, 2004
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndromeMaren Runte, Raymonda Varon, Denise Horn, et al.
European Journal of Medical Genetics|August 5, 2008
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contracturesAndreas Busche, Eva Klopocki, Reinhard Ullmann, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrumDenise Horn, Peter Krawitz, Anca Mannhardt, et al.
Interdisciplinary Cardiovascular and Thoracic Surgery|February 21, 2023
Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-upRoland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, et al.
Interactive Cardiovascular and Thoracic Surgery|June 11, 2022
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetusKatharina Schoner, Rainer Bald, Denise Horn, et al.
Human Mutation|February 15, 2012
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbingWenke Seifert, Jirko Kühnisch, Beyhan Tüysüz, et al.
Journal of Clinical Ultrasound : JCU|January 30, 2020
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndromeJudith Altmann, Denise Horn, Dirk Korinth, et al.
BMC Medical Genomics|January 12, 2019
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case reportMagdalena Danyel, Eun Kyung Suk, Vera Raile, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4Pablo Villavicencio-Lorini, Eva Klopocki, Marc Trimborn, et al.
Pageof 17