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Patrick Calvas

Showing results (71-80 of 97) with videos related to

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Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.
Journal of Medical Genetics|January 26, 2013
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosisVincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Scientific Reports|June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the RuleLaure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 10

Showing results (71-80 of 97) with videos related to

Sort By:
Pageof 10
Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.
Journal of Medical Genetics|January 26, 2013
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosisVincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Scientific Reports|June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the RuleLaure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 10