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Bertrand Isidor

Showing results (51-60 of 365) with videos related to

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Journal of Human Genetics|May 10, 2019
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitisAnne Molitor, Tony Prud'homme, Zhichao Miao, et al.
Pediatric Dermatology|February 15, 2019
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literatureLouise Muguet Guenot, Helene Aubert, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|September 3, 2009
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical courseBertrand Isidor, Antoine Hamel, Frank Plasschaert, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|June 13, 2018
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variantChloé J Arthuis, Mathilde Nizon, Martin Kömhoff, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndromeFranck Bourdeaut, Bertrand Isidor, Sandrine Ferrand, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 24, 2019
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literaturePauline Marzin, Sophie Rondeau, Kimberly A Aldinger, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
American Journal of Medical Genetics. Part A|April 9, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literatureLeila Ghesh, Marie Vincent, Anne-Sophie Delemazure, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndromeRaphael Carapito, Alice Goldenberg, Nicodème Paul, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
Pageof 37

Showing results (51-60 of 365) with videos related to

Sort By:
Pageof 37
Journal of Human Genetics|May 10, 2019
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitisAnne Molitor, Tony Prud'homme, Zhichao Miao, et al.
Pediatric Dermatology|February 15, 2019
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literatureLouise Muguet Guenot, Helene Aubert, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|September 3, 2009
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical courseBertrand Isidor, Antoine Hamel, Frank Plasschaert, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|June 13, 2018
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variantChloé J Arthuis, Mathilde Nizon, Martin Kömhoff, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndromeFranck Bourdeaut, Bertrand Isidor, Sandrine Ferrand, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 24, 2019
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literaturePauline Marzin, Sophie Rondeau, Kimberly A Aldinger, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
American Journal of Medical Genetics. Part A|April 9, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literatureLeila Ghesh, Marie Vincent, Anne-Sophie Delemazure, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndromeRaphael Carapito, Alice Goldenberg, Nicodème Paul, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
Pageof 37