Zobrazeno 1 - 10
of 1 098
pro vyhledávání: '"OROFACIODIGITAL syndromes"'
Autor:
Martinez-Molina M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Carmona-Rocha E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Gil-Lianes J; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Yubero D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Casas-Alba D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Baselga E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Ivars M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Nov-Dec; Vol. 41 (6), pp. 1199-1202. Date of Electronic Publication: 2024 Jul 05.
Autor:
Singh S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Chaudhry C; Suma Genomics Private Limited, Manipal, India., Salvankar S; Suma Genomics Private Limited, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. girish.katta@manipal.edu.; Suma Genomics Private Limited, Manipal, India. girish.katta@manipal.edu.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman. girish.katta@manipal.edu.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1022-1026. Date of Electronic Publication: 2024 May 03.
Autor:
Queiroz A; Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, Brazil., Pina PSS; Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, Brazil., Novaes MSP; Clinician of Special Laboratory of Laser in Dentistry (LELO), University of São Paulo, São Paulo, Brazil., Dutra B; Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, Brazil., de Sousa SCOM; Clinician of Special Laboratory of Laser in Dentistry (LELO), University of São Paulo, São Paulo, Brazil., Azevedo LH; Clinician of Special Laboratory of Laser in Dentistry (LELO), University of São Paulo, São Paulo, Brazil.
Publikováno v:
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2024 Jul-Aug; Vol. 44 (4), pp. 1036-1040. Date of Electronic Publication: 2024 Jan 07.
Autor:
Lakhanpal V; Department of Neurology, All India Institute of Medical Sciences, Bathinda, India drvikaslakhanpal@gmail.com., Peer S; Department of Radiology, All India Institute of Medical Sciences, Bathinda, India., Sharma B; Department of Microbiology, All India Institute of Medical Sciences, Bathinda, India.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 Jun 05; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 05.
Autor:
Hannes L; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Atzori M; Department of Human Genetics, KU Leuven, Leuven, Belgium., Goldenberg A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Rouen, Rouen, France., Argente J; Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBEROBN de fisiopatología de la obesidad y nutrición, Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, Madrid, Spain., Attie-Bitach T; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Amiel J; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Attanasio C; Department of Human Genetics, KU Leuven, Leuven, Belgium., Braslavsky DG; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE) CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez. Buenos Aires, Argentina., Bruel AL; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Castanet M; Normandie Univ, UNIROUEN, Inserm U1239, CHU Rouen, Department of Pediatrics, Rouen, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR, UMR 6290, ERL U1305, Rennes, France., Jacobs A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Lyonnet S; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Martinez-Mayer J; Instituto de Biociencias, Biotecnología y Biología Traslacional (IB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina., Pérez Millán MI; Instituto de Biociencias, Biotecnología y Biología Traslacional (IB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina., Pezzella N; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy; Scuola Superiore Meridionale, School for Advanced Studies, Genomics and Experimental Medicine program, Naples, Italy., Pelgrims E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Aerden M; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bauters M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Rochtus A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Scaglia P; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE) CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez. Buenos Aires, Argentina., Swillen A; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Sifrim A; Department of Human Genetics, KU Leuven, Leuven, Belgium., Tammaro R; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy., Mau-Them FT; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Odent S; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR, UMR 6290, ERL U1305, Rennes, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Ouest, ERN ITHACA, FHU GenOmedS, Centre Hospitalier Universitaire Rennes, Rennes, France., Thauvin-Robinet C; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de Référence Anomalies du Développement de l'Est, Centre de Génétique, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France., Franco B; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy; Scuola Superiore Meridionale, School for Advanced Studies, Genomics and Experimental Medicine program, Naples, Italy; Department of Translational Medicine, Medical Genetics Federico II University of Naples, Naples, Italy., Breckpot J; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium. Electronic address: jeroen.breckpot@uzleuven.be.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101059. Date of Electronic Publication: 2023 Dec 27.
Autor:
Dwivedi S; Department of Pedodontics and Preventive Dentistry, New Horizon Dental College and Research Institute, Sakri, Bilaspur, India., Thakur A; Department of Pedodontics and Preventive Dentistry, New Horizon Dental College and Research Institute, Sakri, Bilaspur, India.
Publikováno v:
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2024 Mar-Apr; Vol. 44 (2), pp. 421-427. Date of Electronic Publication: 2023 Apr 24.
Autor:
Bruel AL; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France., Ganga AK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA., Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute,08035 Barcelona, Spain., Martinovic J; Unit of Embryo-Fetal Pathology, AP-HP, Antoine Béclère Hospital, Paris Saclay University, 92141 Clamart, France., Duffourd Y; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France., Zikánová M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic., Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic., Mohler M; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava 708 52, Czech Republic., Sun J; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA., Sweeney LK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA., Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Research Institute,08035 Barcelona, Spain., Thauvin-Robinet C; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.; Centre de Génétique et Centre de référence maladies rares 'Anomalies du Développement et Syndromes Malformatifs', FHU-TRANSLAD, Hôpital d'Enfants, CHU Dijon Bourgogne, 21079 Dijon, France., Breslow DK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Sep 05; Vol. 32 (18), pp. 2822-2831.
Autor:
Ritchie L; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, Florida, USA., Zayat R; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, Florida, USA., Chebib FT; Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, Florida, USA; Mayo Clinic Florida Polycystic Kidney Disease Center of Excellence, Jacksonville, Florida, USA. Electronic address: chebib.fouad@mayo.edu.
Publikováno v:
Kidney international [Kidney Int] 2023 Aug; Vol. 104 (2), pp. 399.
Autor:
Venkatesan C; Division of Neurology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Countee E; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Wong B; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Spaeth C; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Kline-Fath BM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Radiology and Medical Imaging, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Nagaraj UD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Radiology and Medical Imaging, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Publikováno v:
Journal of child neurology [J Child Neurol] 2023 Feb; Vol. 38 (1-2), pp. 31-37. Date of Electronic Publication: 2022 Dec 25.
Autor:
Papuc SM; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Erbescu A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Glangher A; Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania., Streata I; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Riza AL; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Budisteanu M; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.; Department of Genetics, Faculty of Medicine, Titu Maiorescu University, 031593 Bucharest, Romania., Arghir A; Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.
Publikováno v:
Genes [Genes (Basel)] 2023 Jan 27; Vol. 14 (2). Date of Electronic Publication: 2023 Jan 27.