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Odile Boute

Showing results (11-20 of 75) with videos related to

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Human Reproduction (Oxford, England)|April 4, 2020
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestationsGeorgios E Papadakis, Agathe Dumont, Jerome Bouligand, et al.
European Journal of Human Genetics : EJHG|June 8, 2017
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorderJamal Ghoumid, Florence Petit, Odile Boute-Benejean, et al.
European Journal of Medical Genetics|December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineationPauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritanceDavid Chitayat, Hana Sroka, Sarah Keating, et al.
Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.
European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.
Pageof 8

Showing results (11-20 of 75) with videos related to

Sort By:
Pageof 8
Human Reproduction (Oxford, England)|April 4, 2020
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestationsGeorgios E Papadakis, Agathe Dumont, Jerome Bouligand, et al.
European Journal of Human Genetics : EJHG|June 8, 2017
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorderJamal Ghoumid, Florence Petit, Odile Boute-Benejean, et al.
European Journal of Medical Genetics|December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineationPauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritanceDavid Chitayat, Hana Sroka, Sarah Keating, et al.
Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.
European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.
Pageof 8