Shaping the Future of Probiotics and Prebiotics
Cunningham, Marla, Azcarate-Peril, M. Andrea, Barnard, Alan, Benoit, Valerie, Grimaldi, Roberta, Guyonnet, Denis, Holscher, Hannah D., Hunter, Kirsty, Manurung, Sarmauli, Obis, David, Petrova, Mariya I., Steinert, Robert E., Swanson, Kelly S., van Sinderen, Douwe, Vulevic, Jelena, Gibson, Glenn R.
Published in Trends in microbiology (Regular ed.) (01.08.2021)
Published in Trends in microbiology (Regular ed.) (01.08.2021)
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Journal Article
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Lederer, Damien, Grisart, Bernard, Digilio, Maria Cristina, Benoit, Valérie, Crespin, Marianne, Ghariani, Sophie Claire, Maystadt, Isabelle, Dallapiccola, Bruno, Verellen-Dumoulin, Christine
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Consumption of Yogurts Fortified in Vitamin D and Calcium Reduces Serum Parathyroid Hormone and Markers of Bone Resorption: A Double-Blind Randomized Controlled Trial in Institutionalized Elderly Women
Bonjour, Jean-Philippe, Benoit, Valérie, Payen, Flore, Kraenzlin, Marius
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
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Journal Article
Consumption of Vitamin D-and Calcium-Fortified Soft White Cheese Lowers the Biochemical Marker of Bone Resorption TRAP 5b in Postmenopausal Women at Moderate Risk of Osteoporosis Fracture
BONJOUR, Jean-Philippe, BENOIT, Valérie, ROUSSEAU, Brigitte, SOUBERBIELLE, Jean-Claude
Published in The Journal of nutrition (01.04.2012)
Published in The Journal of nutrition (01.04.2012)
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Journal Article
A second case of Okamoto syndrome caused by HNRNPK mutation
Maystadt, Isabelle, Deprez, Marie, Moortgat, Stéphanie, Benoît, Valérie, Karadurmus, Deniz
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome
Belge, Hendrica, Dahan, Karin, Cambier, Jean-François, Benoit, Valérie, Morelle, Johann, Bloch, Julie, Vanhille, Philippe, Pirson, Yves, Demoulin, Nathalie
Published in Nephrology, dialysis, transplantation (01.05.2017)
Published in Nephrology, dialysis, transplantation (01.05.2017)
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Journal Article
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
Effects of Vitamin D and Calcium Fortified Yogurts on Gait, Cognitive Performances, and Serum 25-Hydroxyvitamin D Concentrations in Older Community-Dwelling Females: Results from the GAit, MEmory, Dietary and Vitamin D (GAME-D2) Randomized Controlled Trial
Beauchet, Olivier, Launay, Cyrille P, Galery, Kevin, Vilcocq, Christine, Dontot-Payen, Flore, Rousseau, Brigitte, Benoit, Valérie, Allali, Gilles
Published in Nutrients (26.11.2019)
Published in Nutrients (26.11.2019)
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Journal Article
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants
Moortgat, Stephanie, Manfroid, Isabelle, Pendeville, Hélène, Freeman, Stephen, Bourdouxhe, Jordane, Benoit, Valérie, Merhi, Ahmad, Philippe, Christophe, Faivre, Laurence, Maystadt, Isabelle
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec, Mateja, Cleall, Alison, Hoyer, Juliane, Lederer, Damien, Nassogne, Marie-Cécile, Palmer, Elizabeth E, Deprez, Marie, Benoit, Valérie, Maystadt, Isabelle, Noakes, Charlotte, Leal, Alejandro, Shaw, Marie, Gecz, Jozef, Raymond, Lucy, Reis, André, Shears, Deborah, Brockmann, Knut, Zweier, Christiane
Published in Journal of medical genetics (01.12.2016)
Published in Journal of medical genetics (01.12.2016)
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Journal Article
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
Lederer, Damien, Shears, Debbie, Benoit, Valérie, Verellen-Dumoulin, Christine, Maystadt, Isabelle
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
Moortgat, Stéphanie, Désir, Julie, Benoit, Valérie, Boulanger, Sébastien, Pendeville, Hélène, Nassogne, Marie-Cécile, Lederer, Damien, Maystadt, Isabelle
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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Journal Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
Carmignac, Virginie, Nambot, Sophie, Lehalle, Daphné, Callier, Patrick, Moortgat, Stephanie, Benoit, Valérie, Ghoumid, Jamal, Delobel, Bruno, Smol, Thomas, Thuillier, Caroline, Zordan, Cécile, Naudion, Sophie, Bienvenu, Thierry, Touraine, Renaud, Ramond, Francis, Zweier, Christiane, Reis, André, Kraus, Cornelia, Nizon, Mathilde, Cogné, Benjamin, Verloes, Alain, Tran Mau‐Them, Frédéric, Sorlin, Arthur, Jouan, Thibaud, Duffourd, Yannis, Tisserant, Emilie, Philippe, Christophe, Vitobello, Antonio, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel
Published in Clinical genetics (01.07.2020)
Published in Clinical genetics (01.07.2020)
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Journal Article
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature
Biard, Jean-Marc, Payrat, Stéphanie, Clapuyt, Philippe, Barrea, Catherine, Benoit, Valérie, Baldin, Pamela, Bernard, Pierre, Van Grambezen, Bénédicte, Sznajer, Yves
Published in European journal of medical genetics (01.04.2021)
Published in European journal of medical genetics (01.04.2021)
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Journal Article
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
Lhuissier, Charlène, Wagner, Bart E., Vincent, Amy, Garraux, Gaëtan, Hougrand, Olivier, Van Coster, Rudy, Benoit, Valerie, Karadurmus, Deniz, Lenaers, Guy, Gueguen, Naïg, Chevrollier, Arnaud, Maystadt, Isabelle
Published in Frontiers in neurology (23.09.2022)
Published in Frontiers in neurology (23.09.2022)
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Journal Article
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance
Demaret, Tanguy, Wintjens, René, Sana, Gwenaelle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valerie, Maystadt, Isabelle
Published in Frontiers in endocrinology (Lausanne) (30.06.2022)
Published in Frontiers in endocrinology (Lausanne) (30.06.2022)
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