Genomic approaches to diagnose rare bone disorders
Falardeau, Félix, Camurri, Maria Vittoria, Campeau, Philippe M
Published in Bone (New York, N.Y.) (01.09.2017)
Published in Bone (New York, N.Y.) (01.09.2017)
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses
Beauregard-Lacroix, Eliane, Tardif, Jessica, Camurri, Maria Vittoria, Lemyre, Emmanuelle, Barchi, Soraya, Parent, Stefan, Campeau, Philippe M
Published in Spine (Philadelphia, Pa. 1976) (15.07.2017)
Published in Spine (Philadelphia, Pa. 1976) (15.07.2017)
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DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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