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Stanislas Lyonnet

Showing results (181-190 of 260) with videos related to

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American Journal of Human Genetics|July 6, 2010
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityEileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth A Grice, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 28, 2022
Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathiesHugo Garcia, Alice S Serafin, Flora Silbermann, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Gastroenterology|December 14, 2011
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndromeChristine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndromeLaurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Pageof 26

Showing results (181-190 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|July 6, 2010
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityEileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth A Grice, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 28, 2022
Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathiesHugo Garcia, Alice S Serafin, Flora Silbermann, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Gastroenterology|December 14, 2011
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndromeChristine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndromeLaurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Pageof 26