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

Marc Delpech

Showing results (31-40 of 39) with videos related to

Pageof 4
Sort By:
You have reached the last page of results.This site can display upto 39 results.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Blood|November 2, 2017
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variantsCyrille Garnier, Fatma Briki, Brigitte Nedelec, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Plos Genetics|October 24, 2006
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, et al.
American Journal of Human Genetics|May 7, 2002
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromesCatherine Dodé, Nathalie Le Dû, Laurence Cuisset, et al.
The New England Journal of Medicine|June 15, 2012
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulinSophie Valleix, Julian D Gillmore, Frank Bridoux, et al.
Nature Communications|January 22, 2016
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profileSophie Valleix, Guglielmo Verona, Noémie Jourde-Chiche, et al.
Nature Genetics|March 11, 2003
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeCatherine Dodé, Jacqueline Levilliers, Jean-Michel Dupont, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Blood|November 2, 2017
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variantsCyrille Garnier, Fatma Briki, Brigitte Nedelec, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Plos Genetics|October 24, 2006
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, et al.
American Journal of Human Genetics|May 7, 2002
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromesCatherine Dodé, Nathalie Le Dû, Laurence Cuisset, et al.
The New England Journal of Medicine|June 15, 2012
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulinSophie Valleix, Julian D Gillmore, Frank Bridoux, et al.
Nature Communications|January 22, 2016
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profileSophie Valleix, Guglielmo Verona, Noémie Jourde-Chiche, et al.
Nature Genetics|March 11, 2003
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeCatherine Dodé, Jacqueline Levilliers, Jean-Michel Dupont, et al.
Pageof 4