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Guillaume Smits

Showing results (31-40 of 60) with videos related to

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Frontiers in Medicine|December 27, 2021
Case Report: Homozygous Pathogenic Variant P209L in the <i>TTC21B</i> Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature ReviewGiuseppe Gambino, Concetta Catalano, Martina Marangoni, et al.
Nucleic Acids Research|October 21, 2015
DIDA: A curated and annotated digenic diseases databaseAndrea M Gazzo, Dorien Daneels, Elisa Cilia, et al.
The EMBO Journal|May 13, 2005
Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativityEneko Urizar, Lucia Montanelli, Tiffany Loy, et al.
The Journal of Clinical Endocrinology and Metabolism|February 28, 2019
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and MenCécile Brachet, Elena A Kozhemyakina, Emese Boros, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 2019
Predicting disease-causing variant combinationsSofia Papadimitriou, Andrea Gazzo, Nassim Versbraegen, et al.
Pediatric Dermatology|March 19, 2022
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndromeDeborah Salik, Smail Hadj-Rabia, Daniel Hohl, et al.
American Journal of Medical Genetics. Part A|August 19, 2020
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3Lionel Paternoster, Julie Soblet, Alec Aeby, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systemsJulie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, et al.
Kidney Medicine|March 9, 2026
A Partial <i>UMOD</i> Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-UromodulinSorya Fagnoul, Lidia Ghisdal, Martina Marangoni, et al.
Molecular Endocrinology (Baltimore, Md.)|May 29, 2004
Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptorLucia Montanelli, Joost J J Van Durme, Guillaume Smits, et al.
Pageof 6

Showing results (31-40 of 60) with videos related to

Sort By:
Pageof 6
Frontiers in Medicine|December 27, 2021
Case Report: Homozygous Pathogenic Variant P209L in the <i>TTC21B</i> Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature ReviewGiuseppe Gambino, Concetta Catalano, Martina Marangoni, et al.
Nucleic Acids Research|October 21, 2015
DIDA: A curated and annotated digenic diseases databaseAndrea M Gazzo, Dorien Daneels, Elisa Cilia, et al.
The EMBO Journal|May 13, 2005
Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativityEneko Urizar, Lucia Montanelli, Tiffany Loy, et al.
The Journal of Clinical Endocrinology and Metabolism|February 28, 2019
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and MenCécile Brachet, Elena A Kozhemyakina, Emese Boros, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 2019
Predicting disease-causing variant combinationsSofia Papadimitriou, Andrea Gazzo, Nassim Versbraegen, et al.
Pediatric Dermatology|March 19, 2022
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndromeDeborah Salik, Smail Hadj-Rabia, Daniel Hohl, et al.
American Journal of Medical Genetics. Part A|August 19, 2020
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3Lionel Paternoster, Julie Soblet, Alec Aeby, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systemsJulie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, et al.
Kidney Medicine|March 9, 2026
A Partial <i>UMOD</i> Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-UromodulinSorya Fagnoul, Lidia Ghisdal, Martina Marangoni, et al.
Molecular Endocrinology (Baltimore, Md.)|May 29, 2004
Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptorLucia Montanelli, Joost J J Van Durme, Guillaume Smits, et al.
Pageof 6