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1دورية أكاديمية
المؤلفون: Frédéric Ancot, Philippe Lemay, Susan P. Knowler, Karen Kennedy, Sandra Griffiths, Giunio Bruto Cherubini, Jane Sykes, Paul J. J. Mandigers, Guy A. Rouleau, Clare Rusbridge, Zoha Kibar
المصدر: BMC Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Syringomyelia, Chiari malformation, CKCS dog breed, Cranial MRI measurements, Whole genome association study, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Mingqin Wang, Patrizia de Marco, Valeria Capra, Zoha Kibar
المصدر: Cells, Vol 8, Iss 10, p 1198 (2019)
مصطلحات موضوعية: neural tube defects, planar cell polarity, convergent extension, candidate genes, animal models, human cohorts, Cytology, QH573-671
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Susan P Knowler, Chloe Cross, Sandra Griffiths, Angus K McFadyen, Jelena Jovanovik, Anna Tauro, Zoha Kibar, Colin J Driver, Roberto M La Ragione, Clare Rusbridge
المصدر: PLoS ONE, Vol 12, Iss 1, p e0170315 (2017)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
المصدر: PLoS Genetics, Vol 10, Iss 5, p e1004311 (2014)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Susan P Knowler, Angus K McFadyen, Courtenay Freeman, Marc Kent, Simon R Platt, Zoha Kibar, Clare Rusbridge
المصدر: PLoS ONE, Vol 9, Iss 2, p e88120 (2014)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Philippe Lemay, Susan P Knowler, Samir Bouasker, Yohann Nédélec, Simon Platt, Courtenay Freeman, Georgina Child, Luis B Barreiro, Guy A Rouleau, Clare Rusbridge, Zoha Kibar
المصدر: PLoS ONE, Vol 9, Iss 4, p e89816 (2014)
وصف الملف: electronic resource
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7
المؤلفون: Stéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, Helen Bui, Guy A. Rouleau, Dan Spiegelman, Mark E. Samuels, Zoha Kibar, Guy Van Vliet, Johnny Deladoëy
المصدر: Thyroid. 32:486-495
مصطلحات موضوعية: Endocrinology, Case-Control Studies, Endocrinology, Diabetes and Metabolism, Mutation, Thyroid Dysgenesis, Exome Sequencing, Congenital Hypothyroidism, Humans, Exome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bde696f5ece872f9c0b50164b85e6f
https://doi.org/10.1089/thy.2021.0597 -
8
المؤلفون: Ghazi-Abdullah Saroya, Fatma Mohamed, Christopher Panaretos, Monica J. Justice, Qing Li, Thomas L. Rothstein, Yu Wang, Lei Yu, Alexander V. Ludlow, Renny T. Franceschi, Philippe Lemay, Marie-Claude Guyot, Rami Khoriaty, Sharon A. Singh, James Douglas Engel, Zoha Kibar, Greggory Myers, Vesa Kaartinen, Emily Schneider, Morgan Jones
المصدر: Blood advances. 5(20)
مصطلحات موضوعية: Genetics, Ribosomal Proteins, Mutation, Mutant, Hematology, Haploinsufficiency, Biology, medicine.disease, medicine.disease_cause, Phenotype, Penetrance, Mice, Germline mutation, medicine, Animals, Humans, Macrocytic anemia, Diamond–Blackfan anemia, Anemia, Diamond-Blackfan
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9
المؤلفون: Fatma Mohamed, Vesa Kaartinen, Emily Schneider, Yu Wang, Zoha Kibar, Marie-Claude Guyot, Thomas L. Rothstein, Renny T. Franceschi, Monica J. Justice, Philippe Lemay, Christopher Panaretos, Ghazi-Abdullah Saroya, James Douglas Engel, Greggory Myers, Sharon A. Singh, Rami Khoriaty, Morgan Jones, Lei Yu, Alexander V. Ludlow, Qing Li
مصطلحات موضوعية: Genetics, Mutation, Germline mutation, Mutant, medicine, Macrocytic anemia, Biology, Diamond–Blackfan anemia, medicine.disease, Haploinsufficiency, medicine.disease_cause, Penetrance, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::12be7c16da4c954d57b9406606d2217f
https://doi.org/10.1101/2021.02.27.430069 -
10
المؤلفون: Johnny Deladoëy, Fabien Magne, Elwaseila Hamdoun, Anna Petryk, Zoha Kibar, Stéphanie Larrivée-Vanier, Guy Van Vliet
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, endocrine system, endocrine system diseases, diagnosis, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Case Reports, Biology, medicine.disease_cause, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Intronic Mutation, medicine, nongoitrous congenital hypothyroidism, Exome, Exome sequencing, Genetics, Mutation, Thyroid, Intron, medicine.disease, TSHR inactivation, Congenital hypothyroidism, birth defects, 030104 developmental biology, medicine.anatomical_structure, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acc97981b641b1cdb6ae4e5f82cbb6c
https://doi.org/10.1210/jendso/bvaa183