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Journal of Medical Genetics
|
September 15, 2020
De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypes
Dana Jaber, Cyril Gitiaux, Sophie Blesson, et al.
The Journal of Gene Medicine
|
May 5, 2010
Combining keratinocyte growth factor transfection into the airways and tracheal occlusion in a fetal sheep model of congenital diaphragmatic hernia
Julien Saada, Noufissa Oudrhiri, Arnaud Bonnard, et al.
The Journal of Pathology
|
November 17, 2004
Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia
Pascal de Lagausie, Anthony de Buys-Roessingh, Latifa Ferkdadji, et al.
European Journal of Medical Genetics
|
July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations
Sophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
Human Mutation
|
October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
Sophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Solveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Page
of 3
Search research articles
Search
Showing results (21-30 of 27) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 27 results.
Journal of Medical Genetics
|
September 15, 2020
De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypes
Dana Jaber, Cyril Gitiaux, Sophie Blesson, et al.
The Journal of Gene Medicine
|
May 5, 2010
Combining keratinocyte growth factor transfection into the airways and tracheal occlusion in a fetal sheep model of congenital diaphragmatic hernia
Julien Saada, Noufissa Oudrhiri, Arnaud Bonnard, et al.
The Journal of Pathology
|
November 17, 2004
Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia
Pascal de Lagausie, Anthony de Buys-Roessingh, Latifa Ferkdadji, et al.
European Journal of Medical Genetics
|
July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations
Sophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
Human Mutation
|
October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
Sophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Solveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Page
of 3