Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ben Hamel

Showing results (11-20 of 29) with videos related to

Pageof 3
Sort By:
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|February 9, 2005
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)Vedat Topsakal, Ronald J E Pennings, Heleen te Brinke, et al.
American Journal of Medical Genetics. Part A|September 2, 2003
A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, et al.
Human Genetics|January 25, 2003
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeJennifer Winter, Tanja Lehmann, Vanessa Suckow, et al.
American Journal of Human Genetics|March 15, 2006
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotypeJet Bliek, Paulien Terhal, Marie-José van den Bogaard, et al.
The American Journal of Tropical Medicine and Hygiene|December 22, 2020
Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and GenomicsMohamed Zahir Alimohamed, Aneth David Mwakilili, Kenneth Mbwanji, et al.
European Journal of Human Genetics : EJHG|September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
Nature Genetics|December 25, 2007
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalingElen Griffith, Sarah Walker, Carol-Anne Martin, et al.
American Journal of Human Genetics|February 7, 2003
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndromeVictor L Ruiz-Perez, Stuart W J Tompson, Helen J Blair, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|February 9, 2005
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)Vedat Topsakal, Ronald J E Pennings, Heleen te Brinke, et al.
American Journal of Medical Genetics. Part A|September 2, 2003
A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, et al.
Human Genetics|January 25, 2003
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeJennifer Winter, Tanja Lehmann, Vanessa Suckow, et al.
American Journal of Human Genetics|March 15, 2006
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotypeJet Bliek, Paulien Terhal, Marie-José van den Bogaard, et al.
The American Journal of Tropical Medicine and Hygiene|December 22, 2020
Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and GenomicsMohamed Zahir Alimohamed, Aneth David Mwakilili, Kenneth Mbwanji, et al.
European Journal of Human Genetics : EJHG|September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
Nature Genetics|December 25, 2007
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalingElen Griffith, Sarah Walker, Carol-Anne Martin, et al.
American Journal of Human Genetics|February 7, 2003
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndromeVictor L Ruiz-Perez, Stuart W J Tompson, Helen J Blair, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
Pageof 3