Zobrazeno 1 - 10
of 105 958
pro vyhledávání: '"Heterozygote"'
Autor:
Platt CJ; Bristol Royal Hospital for Children, Bristol, BS2 8NJ, UK. Caroline.platt2@nhs.net., Bierzynska A; Bristol Renal, University of Bristol, Bristol, UK., Ding W; Bristol Renal, University of Bristol, Bristol, UK., Saleem SA; King's College, London, UK., Koziell A; King's College and Evelina, London, UK., Saleem MA; Bristol Renal, University of Bristol, Bristol, UK.
Publikováno v:
Scientific reports [Sci Rep] 2024 Aug 10; Vol. 14 (1), pp. 18568. Date of Electronic Publication: 2024 Aug 10.
Autor:
Idiiatullina E; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.; Department of Therapy and Nursing, Bashkir State Medical University, Ufa, Russia.; Department of Pathology, Immunology and Laboratory Medicine, Center for Immunity and Inflammation, Rutgers New Jersey Medical School, Newark, USA., Al-Azab M; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.; Department of Medical Microbiology, Faculty of Medicine, University of Science and Technology, Aden, Yemen., Lin M; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Hrovat-Schaale K; Department of Therapy and Nursing, Bashkir State Medical University, Ufa, Russia.; Department of Medical Microbiology, Faculty of Medicine, University of Science and Technology, Aden, Yemen., Liu Z; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Li X; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Guo C; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Chen X; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Li Y; State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center, Sun Yat-sen University Cancer Center, Guangzhou, China., Gao S; State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center, Sun Yat-sen University Cancer Center, Guangzhou, China., Cui J; School of Life Sciences, Sun Yat-sen University, Guangzhou, China., Zhou W; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Liu L; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. liliuchina@qq.com., Zhang Y; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. yuxia.zhang@gwcmc.org., Masters SL; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. seth.masters@hudson.org.au.; Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia. seth.masters@hudson.org.au.; Department of Medical Biology, The University of Melbourne, Parkville, Australia. seth.masters@hudson.org.au.; Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, VIC, Australia. seth.masters@hudson.org.au.; Department of Molecular and Translational Science, Monash University, Clayton, VIC, Australia. seth.masters@hudson.org.au.
Publikováno v:
Nature communications [Nat Commun] 2024 Aug 06; Vol. 15 (1), pp. 6685. Date of Electronic Publication: 2024 Aug 06.
Autor:
Kiko T; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Asano R; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan.; Department of Vascular Physiology National Cerebral and Cardiovascular Center Research Institute Osaka Japan., Ishibashi T; Department of Vascular Physiology National Cerebral and Cardiovascular Center Research Institute Osaka Japan., Endo H; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Nishi N; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Hayashi H; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Ueda J; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Aoki T; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Tsuji A; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan., Nakaoka Y; Department of Vascular Physiology National Cerebral and Cardiovascular Center Research Institute Osaka Japan., Ogo T; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan.
Publikováno v:
Journal of the American Heart Association [J Am Heart Assoc] 2024 Aug 06; Vol. 13 (15), pp. e035009. Date of Electronic Publication: 2024 Jul 26.
Autor:
Wang Y; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University., Liang Y; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University., Huang B; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University., Cen X; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University., Huang L; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University., Chen K; Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University.
Publikováno v:
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Aug; Vol. 38 (8), pp. 679-686.
Autor:
Shi X; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China., Liu X; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China., Zong Y; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China., Zhao Z; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China., Sun Y; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China.; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Institute of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2502.
Autor:
Lacy KD; Laboratory of Social Evolution and Behavior, The Rockefeller University, New York, NY, USA. klacy@rockefeller.edu., Hart T; Laboratory of Social Evolution and Behavior, The Rockefeller University, New York, NY, USA., Kronauer DJC; Laboratory of Social Evolution and Behavior, The Rockefeller University, New York, NY, USA. dkronauer@rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. dkronauer@rockefeller.edu.
Publikováno v:
Nature ecology & evolution [Nat Ecol Evol] 2024 Aug; Vol. 8 (8), pp. 1522-1533. Date of Electronic Publication: 2024 Jul 16.
Autor:
Lee ASE; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu., Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Roshini.Abraham@nationwidechildrens.org., Basu A; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Amrita.Basu@nationwidechildrens.org., Lederman H; Division of Allergy and Immunology, Johns Hopkins Children's Center, Baltimore, MD, USA. Electronic address: hlederm1@jhmi.edu., Cunningham-Rundles C; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.
Publikováno v:
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Aug; Vol. 265, pp. 110294. Date of Electronic Publication: 2024 Jun 22.
Autor:
Achour A; Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.; Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Knijnenburg J; Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands., Koopmann T; Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands., Raz A; Institute for Interdisciplinary Brain and Behavioral Sciences, Chapman University, Irvine, California, USA., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Coates TD; Hematology Section, Cancer and Blood Disease Institute, Childrens Hospital Los Angeles, University of Southern California, Los Angeles, California, USA., Baas F; Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands., Harteveld CL; Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands.
Publikováno v:
American journal of hematology [Am J Hematol] 2024 Aug; Vol. 99 (8), pp. 1655-1658. Date of Electronic Publication: 2024 May 30.
Association of MPL K39N and R102P heterozygous germline mutations lead to hereditary thrombocytosis.
Autor:
Voirin E; Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France.; Laboratoire d'Hématologie, CHU Tours, Tours, France., Bouvier A; Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France., Plo I; INSERM, UMR 1287, Gustave Roussy, Université Paris Saclay, Villejuif, France., Durix L; INSERM, UMR 1287, Gustave Roussy, Université Paris Saclay, Villejuif, France., Beucher A; Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France., Giraudier S; Cellular biology Department, Saint-Louis Hospital, APHP, Université Paris Cité, Paris, France., Ugo V; Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France., Brasme JF; CHU Angers, Unité d'Onco-Hémato-Immunologie pédiatrique, Angers, France., Luque Paz D; Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France.
Publikováno v:
American journal of hematology [Am J Hematol] 2024 Aug; Vol. 99 (8), pp. 1644-1646. Date of Electronic Publication: 2024 May 16.
Autor:
Rietmann SJ; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; DermFocus, University of Bern, Bern, Switzerland., Nowell S; Animal Dermatology Group, Inc, Greenville, South Carolina, USA., Keating MK; Animal Dermatology Group, Inc, Las Vegas, Nevada, USA., Bauer C; Animal Dermatology Group, Inc, Greenville, South Carolina, USA., Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; DermFocus, University of Bern, Bern, Switzerland.
Publikováno v:
Animal genetics [Anim Genet] 2024 Aug; Vol. 55 (4), pp. 705-707. Date of Electronic Publication: 2024 May 14.