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

Annick Raas-Rothschild

Showing results (61-70 of 89) with videos related to

Pageof 9
Sort By:
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
American Journal of Medical Genetics. Part A|November 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
American Journal of Human Genetics|January 24, 2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndromeNathalie Dagoneau, Deborah Scheffer, Céline Huber, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
International Journal of Molecular Sciences|November 5, 2020
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing EnteropathyJorik M van Rijn, Lael Werner, Yusuf Aydemir, et al.
Disease Models & Mechanisms|February 11, 2017
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexesSabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, et al.
Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Pageof 9

Showing results (61-70 of 89) with videos related to

Sort By:
Pageof 9
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
American Journal of Medical Genetics. Part A|November 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
American Journal of Human Genetics|January 24, 2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndromeNathalie Dagoneau, Deborah Scheffer, Céline Huber, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
International Journal of Molecular Sciences|November 5, 2020
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing EnteropathyJorik M van Rijn, Lael Werner, Yusuf Aydemir, et al.
Disease Models & Mechanisms|February 11, 2017
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexesSabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, et al.
Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Pageof 9