Zobrazeno 1 - 10
of 3 609
pro vyhledávání: '"De Lange Syndrome"'
Autor:
Foglia M; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Guarrera L; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Kurosaki M; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Cassanmagnago GA; Department of Oncology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Bolis M; Department of Oncology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.; Faculty of Biomedical Sciences, Institute of Oncology Research, USI, 6500, Bellinzona, TI, Switzerland., Miduri M; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Cereseto A; Laboratory of Molecular Virology, Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Povo, TN, Italy., Umbach A; Laboratory of Molecular Virology, Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Povo, TN, Italy., Craparotta I; Department of Oncology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Fratelli M; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Vallerga A; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Paroni G; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Zanetti A; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Cavallaro AV; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Russo L; Laboratory of Biochemistry and Protein Chemistry, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Garattini E; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy., Terao M; Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy. mineko.terao@marionegri.it.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Oct 25; Vol. 81 (1), pp. 439. Date of Electronic Publication: 2024 Oct 25.
Autor:
Yue X; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Chen M; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Ke X; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Yang H; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Gong F; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Wang L; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Duan L; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Pan H; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Zhu H; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70009.
Autor:
Arlt A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany., Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Ekure E; Faculty of Clinical Sciences, Department of Pediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63641. Date of Electronic Publication: 2024 May 09.
Autor:
Ng R; Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Grados M; Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., O'Connor J; Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Summa D; Cornelia de Lange Syndrome Foundation, Avon, Connecticut, USA., Kline AD; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63793. Date of Electronic Publication: 2024 Jun 22.
Autor:
Takata K; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Kitaguchi T; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Tokushige H; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Nagata T; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Miyayama T; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Shibata K; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Fukuda H; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Yamauchi R; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Fukunaga A; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Tanaka T; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Yokoyama K; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Shakado S; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Yoshimitsu K; Department of Radiology, Fukuoka University Faculty of Medicine, Japan., Kusano H; Department of Clinical Laboratory, National Hospital Organization Kokura Medical Center, Japan., Sakisaka S; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan., Hirai F; Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan.
Publikováno v:
Internal medicine (Tokyo, Japan) [Intern Med] 2024 Jun 01; Vol. 63 (11), pp. 1569-1573. Date of Electronic Publication: 2023 Oct 20.
Autor:
Fritsch LM; Div. of Neonatology and Pediatric Critical Care Medicine., Reinshagen K; Dept. of Pediatric Surgery., Apostolidou S; Div. of Neonatology and Pediatric Critical Care Medicine., Singer D; Div. of Neonatology and Pediatric Critical Care Medicine., Peters U; Gemeinschaftspraxis für Humangenetik und Genetische Labore, Altonaer Straße, Hamburg., de Sousa MT; Dept. of Obstetrics and Fetal Medicine., Herrmann J; Dept. of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf., Deindl P; Div. of Neonatology and Pediatric Critical Care Medicine.
Publikováno v:
Zeitschrift fur Geburtshilfe und Neonatologie [Z Geburtshilfe Neonatol] 2024 Aug; Vol. 228 (4), pp. 394-395. Date of Electronic Publication: 2024 Jan 29.
Autor:
Yildiz D; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Cakir U; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Kahvecioglu D; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Alan S; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Erdeve O; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Atasay B; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Arsan S; Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.
Publikováno v:
Klinische Padiatrie [Klin Padiatr] 2024 Jul; Vol. 236 (4), pp. 252-253. Date of Electronic Publication: 2023 Jul 21.
Autor:
Zhao Y; Antenatal Diagnostic Center, Jinan Maternity and Child Health Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Health Care Hospital), Jinan, Shandong 250001, China. luquan2001@163.com., Shan S, Zhang K, Jin H, Hou F, Cao L
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jul 10; Vol. 41 (7), pp. 835-839.
Autor:
Ascaso Á; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Latorre-Pellicer A; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Puisac B; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Trujillano L; Hospital Clínico Universitario “Lozano Blesa”, Department of Paediatrics, Unit of Clinical Genetics, Zaragoza, Spain, Arnedo M; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Parenti I; Universität Duisburg-Essen, Universitätsklinikum Essen, Institut für Humangenetik, Essen, Germany, Llorente E; Hospital Clinico Universitario “Lozano Blesa”, Clinical Biochemistry Service, Zaragoza, Spain, Puente-Lanzarote JJ; Hospital Clinico Universitario “Lozano Blesa”, Clinical Biochemistry Service, Zaragoza, Spain, Matute-Llorente Á; GENUD (Growth, Exercise, Nutrition and Development) Research Group, Faculty of Health and Sport Sciences, Department of Physiatry and Nursing, Huesca, Spain, Ayerza-Casas A; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Kaiser FJ; Universität Duisburg-Essen, Universitätsklinikum Essen, Institut für Humangenetik, Essen, Germany; Essener Zentrum für Seltene Erkrankung (EZSE), Universitätsmedizin Essen, Essen, Germany, Ramos FJ; Hospital Clínico Universitario “Lozano Blesa”, Department of Paediatrics, Unit of Clinical Genetics, Zaragoza, Spain, Juste JP; University of Zaragoza School of Medicine, Department of Pharmacology-Physiology, Unit of Clinical Genetics and Functional Genomics, Zaragoza, Spain, Bueno-Lozano G; Hospital Clínico Universitario “Lozano Blesa”, Department of Paediatrics, Unit of Endocrinology, Zaragoza, Spain
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 May 31; Vol. 16 (2), pp. 211-217. Date of Electronic Publication: 2022 Dec 09.
Autor:
Pezzani L; Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy.; Genetica Clinica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Pezzoli L; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Rosina E; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Scatigno A; Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy., Cereda A; Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy., Lucca C; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Bellini M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Marchetti D; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Maino M; Patologia Neonatale, ASST Papa Giovanni XXIII, Bergamo, Italy., Mangili G; Patologia Neonatale, ASST Papa Giovanni XXIII, Bergamo, Italy., Selicorni A; Pediatria, ASST Lariana, S. Fermo della Battaglia, Como, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63512. Date of Electronic Publication: 2023 Dec 22.