Zobrazeno 1 - 10
of 7 908
pro vyhledávání: '"Cormier Daire V"'
Autor:
Dupre N; Reference Center for Oral and Dental Rare Diseases, APHP, ORARES, Rothschild Hospital, Paris, France.; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France., Riou MC; Reference Center for Oral and Dental Rare Diseases, APHP, ORARES, Rothschild Hospital, Paris, France.; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France., Isaac J; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France., Ferre F; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France., Cormier-Daire V; Reference Center for Skeletal Dysplasia, INSERM UMR1163, Institut Imagine, Necker Hospital, Université Paris Cité, Paris, France., Kerner S; Reference Center for Oral and Dental Rare Diseases, APHP, ORARES, Rothschild Hospital, Paris, France.; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France.; Department of Periodontics, School of Dentistry, Loma Linda University, Loma Linda, California, USA.; Post-Graduate Program in Periodontology and Implant Dentistry, EFP, Université Paris Cité, Paris, France., de La Dure-Molla M; Reference Center for Oral and Dental Rare Diseases, APHP, ORARES, Rothschild Hospital, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France.; Reference Center for Skeletal Dysplasia, INSERM UMR1163, Institut Imagine, Necker Hospital, Université Paris Cité, Paris, France., Nowwarote N; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France., Acevedo AC; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France.; Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil., Fournier BPJ; Reference Center for Oral and Dental Rare Diseases, APHP, ORARES, Rothschild Hospital, Paris, France.; Centre de Recherche Des Cordeliers, Laboratory of Molecular Oral Pathophysiology, Université Paris Cité, Sorbonne Université, INSERM, Paris, France.; Department of Periodontology, Oral Biology, Pediatric Dentistry, and Oral Surgery, Faculty of Odontology, Université Paris Cité, Paris, France.
Publikováno v:
Oral diseases [Oral Dis] 2024 Sep; Vol. 30 (6), pp. 3799-3812. Date of Electronic Publication: 2024 Apr 02.
Autor:
Rhamati, L., Marcolla, A., Guerrot, A.M., Lerosey, Y., Goldenberg, A., Serey-Gaut, M., Rio, M., Cormier Daire, V., Baujat, G., Lyonnet, S., Rubinato, E., Jonard, L., Rondeau, S., Rouillon, I., Couloignier, V., Jacquemont, M.L., Dupin Deguine, D., Moutton, S., Vincent, M., Isidor, B., Ziegler, A., Marie, J.P., Marlin, S.
Publikováno v:
In International Journal of Pediatric Otorhinolaryngology August 2023 171
Autor:
Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1086-1094. Date of Electronic Publication: 2024 Jul 12.
Autor:
Cuvelier V; Department of Clinical Genetics, Lille University Hospital, Lille, France., Trost D; CERBA Laboratory, Saint-Ouen-l'Aumône, France., Stichelbout M; Department of Pathology, Lille University Hospital, Lille, France., Michot C; Paris Cité University, Reference Center for Skeletal Dysplasia, Imagine Institute, Necker Hospital, Paris, France., Cormier-Daire V; Paris Cité University, Reference Center for Skeletal Dysplasia, Imagine Institute, Necker Hospital, Paris, France., Boutry N; Department of Pediatric Imaging, Lille University Hospital, Lille, France., Machet E; Department of Gynecology & Obstetrics, Arras Hospital, Arras, France., Vincent-Delorme C; Department of Clinical Genetics, Lille University Hospital, Lille, France.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Aug; Vol. 44 (9), pp. 1098-1104. Date of Electronic Publication: 2024 Jun 23.
Autor:
Marzin, P., Cormier-Daire, V.
Publikováno v:
In EMC – Pediatría June 2021 56(2):1-13
Autor:
Semler O; Faculty of Medicine, Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany. joerg.semler@uk-koeln.de., Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Lausch E; Pediatric Genetics, Center for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany., Bober MB; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA., Carroll R; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal., Deyle D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Faden M; Medical Genetic Unit, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Hartmann G; Vienna Bone and Growth Center, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Huser AJ; Paley Advanced Limb Lengthening Institute, West Palm Beach, FL, USA., Legare JM; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA., Mohnike K; Universitätskinderklinik, Otto-Von-Guericke Universität, Magdeburg, Germany., Rohrer TR; Department of General Pediatrics and Neonatology, Saarland University Medical Centre, Homburg, Germany., Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Smith P; Division of Endocrinology, Phoenix Children's Hospital, Phoenix, AZ, USA., Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Verardo A; Division of Pediatric Endocrinology, Children's Hospital of New Jersey at Newark Beth Israel Medical Center, Newark, NJ, USA., White KK; Children's Hospital Colorado, Aurora, CO, USA., Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Publikováno v:
Advances in therapy [Adv Ther] 2024 Jan; Vol. 41 (1), pp. 198-214. Date of Electronic Publication: 2023 Oct 26.
Autor:
Hennocq Q; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Département de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France; Laboratoire 'Forme et Croissance du Crâne', Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine, Université Paris Cité, Paris, France. Electronic address: quentin.hennocq@aphp.fr., Paternoster G; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Département de neurochirurgie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Collet C; Département de génétique moléculaire, Hôpital Robert Debré, Université de Paris Cité, Paris, France., Amiel J; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Service de médecine génomique des maladies rares, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Bongibault T; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Laboratoire 'Forme et Croissance du Crâne', Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine, Université Paris Cité, Paris, France., Bouygues T; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Laboratoire 'Forme et Croissance du Crâne', Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine, Université Paris Cité, Paris, France., Cormier-Daire V; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Service de médecine génomique des maladies rares, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Douillet M; Imagine Institute, INSERM UMR1163, 75015, Paris, France., Dunaway DJ; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Jeelani NO; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., van de Lande LS; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, the Netherlands., Lyonnet S; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Service de médecine génomique des maladies rares, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Ong J; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Picard A; Département de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Rickart AJ; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Rio M; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Service de médecine génomique des maladies rares, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France., Schievano S; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Arnaud E; Département de neurochirurgie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France; Clinique Marcel Sembat (Ramsay), Boulogne, France., Garcelon N; Imagine Institute, INSERM UMR1163, 75015, Paris, France., Khonsari RH; Imagine Institute, INSERM UMR1163, 75015, Paris, France; Département de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France; Laboratoire 'Forme et Croissance du Crâne', Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine, Université Paris Cité, Paris, France; Département de neurochirurgie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.
Publikováno v:
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery [J Craniomaxillofac Surg] 2024 Oct; Vol. 52 (10), pp. 1172-1187. Date of Electronic Publication: 2024 Feb 05.
Autor:
Zahoor M; Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. mzkhaans@yahoo.com.; Centre for Cancer Cell Reprogramming, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. mzkhaans@yahoo.com., Dong Y; Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, H3A 0G1, Canada., Preussner M; Institute of Chemistry and Biochemistry, Freie Universität Berlin, Laboratory of RNA Biochemistry, Takustrasse 6, 14195, Berlin, Germany., Reiterer V; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Shameen Alam S; Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, H3A 0G1, Canada., Haun M; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Horzum U; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Frey Y; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Hajdu R; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Geley S; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria., Cormier-Daire V; Clinical Genetics Department, Université de Paris, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, Paris, France., Heyd F; Institute of Chemistry and Biochemistry, Freie Universität Berlin, Laboratory of RNA Biochemistry, Takustrasse 6, 14195, Berlin, Germany., Jerome-Majewska LA; Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC, H4A 3J1, Canada. loydie.majewska@mcgill.ca.; Department of Human Genetics, McGill University, Montreal, QC, H3A 0G1, Canada. loydie.majewska@mcgill.ca.; Department of Anatomy and Cell Biology, McGill University, Montreal, QC, H3A 2B2, Canada. loydie.majewska@mcgill.ca.; Department of Pediatrics, McGill University, Montreal, QC, H4A 3J1, Canada. loydie.majewska@mcgill.ca., Farhan H; Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. hesso.farhan@i-med.ac.at.; Institute of Pathophysiology, Medical University of Innsbruck, Innrain 80, 6020, Innsbruck, Austria. hesso.farhan@i-med.ac.at.
Publikováno v:
The EMBO journal [EMBO J] 2024 Oct; Vol. 43 (19), pp. 4228-4247. Date of Electronic Publication: 2024 Aug 19.
Autor:
Vanlerberghe C; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France. Electronic address: clemence.vanlerberghe@chu-lille.fr., Frénois F; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Smol T; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Jourdain AS; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Escande F; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Aït-Yahya E; CHU Lille, cellule bioinformatique, plateau commun de séquençage, Lille, France., Aldeeri AA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; King Saud University Medical City, Riyadh, Saudi Arabia., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA., Cormier-Daire V; Paris Cité University, Reference center for skeletal dysplasia, Imagine Institute, INSERM UMR 1163, Necker Hospital Paris, France., Ghoumid J; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Jacob M; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St, Bristol, United Kingdom., Manouvrier S; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Platon J; HEMATIM UR4666, Université Picardie Jules Verne, Amiens, France., Sailer S; Institute of Human Genetics, Heidelberg University, Germany., Brunelle P; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France., Da Costa L; AP-HP, Service Hématologie Biologique, Hôpital Bicêtre, Le Kremlin-Bicêtre, France; HEMATIM UR4666, Université Picardie Jules Vernes, Amiens, France; U1170, Université Paris Saclay, Orsay, France., Petit F; Univ. Lille, CHU Lille, ULR 7364-RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 10; Vol. 26 (12), pp. 101266. Date of Electronic Publication: 2024 Sep 10.
Autor:
Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.