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Guillaume Smits

Showing results (21-30 of 60) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|April 15, 2004
A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndromeLucia Montanelli, Anne Delbaere, Costantino Di Carlo, et al.
European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
Nucleic Acids Research|September 16, 2017
Understanding mutational effects in digenic diseasesAndrea Gazzo, Daniele Raimondi, Dorien Daneels, et al.
The EMBO Journal|May 30, 2003
Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificityGuillaume Smits, Mercedes Campillo, Cédric Govaerts, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening programMarta Baptista Freitas, Laurence Desmyter, Cindy Badoer, et al.
Clinical Case Reports|August 17, 2021
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with <i>TP63</i> gene mutation and <i>LZTR1</i> gene variantsYannick Hurni, Martina Marangoni, Giulia Garofalo, et al.
Nucleic Acids Research|June 1, 2019
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinationsAlexandre Renaux, Sofia Papadimitriou, Nassim Versbraegen, et al.
Ophthalmic Genetics|March 18, 2020
Three cases of molecularly confirmed Knobloch syndromeIrina Balikova, Nuri Serdal Sanak, Depasse Fanny, et al.
HGG Advances|December 29, 2022
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseasesSofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, et al.
Pediatric Reports|August 27, 2021
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature InfantGiovanna D'Amico, Corinne De Laet, Guillaume Smits, et al.
Pageof 6

Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
The Journal of Clinical Endocrinology and Metabolism|April 15, 2004
A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndromeLucia Montanelli, Anne Delbaere, Costantino Di Carlo, et al.
European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
Nucleic Acids Research|September 16, 2017
Understanding mutational effects in digenic diseasesAndrea Gazzo, Daniele Raimondi, Dorien Daneels, et al.
The EMBO Journal|May 30, 2003
Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificityGuillaume Smits, Mercedes Campillo, Cédric Govaerts, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening programMarta Baptista Freitas, Laurence Desmyter, Cindy Badoer, et al.
Clinical Case Reports|August 17, 2021
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with <i>TP63</i> gene mutation and <i>LZTR1</i> gene variantsYannick Hurni, Martina Marangoni, Giulia Garofalo, et al.
Nucleic Acids Research|June 1, 2019
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinationsAlexandre Renaux, Sofia Papadimitriou, Nassim Versbraegen, et al.
Ophthalmic Genetics|March 18, 2020
Three cases of molecularly confirmed Knobloch syndromeIrina Balikova, Nuri Serdal Sanak, Depasse Fanny, et al.
HGG Advances|December 29, 2022
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseasesSofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, et al.
Pediatric Reports|August 27, 2021
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature InfantGiovanna D'Amico, Corinne De Laet, Guillaume Smits, et al.
Pageof 6