Zobrazeno 1 - 10
of 106 287
pro vyhledávání: '"HETEROZYGOTE"'
Autor:
Laitman Y; The Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Oncogenetics Service, Assuta Medical Centers, Tel Aviv, Israel., Niskakoski A; Blueprint Genetics Oy, Helsinki, Finland., Bernstein-Molho R; The Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Koskinen L; Blueprint Genetics Oy, Helsinki, Finland., Rabina D; The Innovation Arm, Assuta Medical Center, Tel Aviv, Israel., Koskenvuo J; Blueprint Genetics Oy, Helsinki, Finland., Friedman E; The Oncogenetics Service, Assuta Medical Centers, Tel Aviv, Israel. eitanf@assuta.co.il.; The Center for Genetics and Early Detection, Assuta Medical Centers, Tel Aviv, Israel. eitanf@assuta.co.il.; The Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel. eitanf@assuta.co.il.; The Meirav high risk clinic, Sheba Medical center, Tel Hashomer, Israel. eitanf@assuta.co.il.
Publikováno v:
Breast cancer research and treatment [Breast Cancer Res Treat] 2024 Dec; Vol. 208 (3), pp. 589-595. Date of Electronic Publication: 2024 Aug 05.
Autor:
Xia L; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Huang J; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.; Department of Gynecology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, PR China., Che Q; Reproductive Medicine Center, Zhongshan Hospital, Fudan University, Shanghai, PR China., Zhang J; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Zhang Z; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Shen Y; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Wang D; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Zhong Y; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China., Liu S; Reproductive Medicine Center, Zhongshan Hospital, Fudan University, Shanghai, PR China., Du J; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Publikováno v:
Human reproduction (Oxford, England) [Hum Reprod] 2024 Nov 01; Vol. 39 (11), pp. 2618-2629.
Autor:
Li YP; Department of Critical Care Medicine, Children's Hospital Affiliated to Xi'an Jiaotong University, Xi'an710003, China., Guo ZY; Department of Critical Care Medicine, Children's Hospital Affiliated to Xi'an Jiaotong University, Xi'an710003, China., Wang Y; Department of Critical Care Medicine, Children's Hospital Affiliated to Xi'an Jiaotong University, Xi'an710003, China.
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Jan 02; Vol. 63 (1), pp. 90-91.
Autor:
Light J; Department of Pediatrics, University of Illinois College of Medicine Peoria, Peoria, IL., Quezada G; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Publikováno v:
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2025 Jan 01; Vol. 47 (1), pp. e62-e64. Date of Electronic Publication: 2024 Dec 31.
Autor:
Brunkhorst M; Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany., Brunkhorst L; Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany., Martens H; Department of Human Genetics, Division of Inherited & Acquired Kidney Diseases, Hannover Medical School, Hannover, Germany., Papizh S; Department of Hereditary and Acquired Kidney Diseases, Veltishev Research and Clinical Institute for Pediatrics and Children Surgery of Pirogov Russian National Research Medical University, Moscow, Russia., Besouw M; Department of Pediatric Nephrology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Grasemann C; Department of Pediatrics, Ruhr-University Bochum, Bochum, Germany., Turan S; Department of Pediatric Endocrinology, Marmara University School of Medicine, Istanbul, Turkey., Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Chromek M; Division of Pediatrics, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden; Division of Pediatrics, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska University Hospital, Stockholm, Sweden., Cornelissen E; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Fila M; Pediatric Nephrology Department, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire (CHU) of Montpellier, Montpellier, France., Lilien M; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Allgrove J; Endocrinology Department, Great Ormond Street Hospital, London, UK., Neuhaus TJ; Department of Pediatrics, Children's Hospital Lucerne, Lucerne, Switzerland., Eltan M; Department of Pediatric Endocrinology, Marmara University School of Medicine, Istanbul, Turkey., Espinosa L; Hospital Universitario La Paz, Madrid, Spain., Schnabel D; Division of Pediatric Endocrinology, Center for Chronically Sick Children, Pediatric Endocrinology, University Medicine, Charitè Berlin, Germany., Gokce I; Department of Pediatric Nephrology, Marmara University School of Medicine, Istanbul, Turkey., González-Rodríguez JD; Department of Pediatric Nephrology, Santa Lucia University Hospital, Cartagena, Spain., Khandelwal P; Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, New Delhi, India., Keijzer-Veen MG; Division of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Lechner F; Department of Pediatrics, Children's Hospital Memmingen, Memmingen, Germany., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, SUM in Katowice, Poland., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Bacchetta J; Department of Pediatric Nephrology, Hospices Civils de Lyon, INSERM 1033 Research Unit, Lyon, France., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Haffner D; Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany. Electronic address: haffner.dieter@mh-hannover.de.
Publikováno v:
Kidney international [Kidney Int] 2025 Jan; Vol. 107 (1), pp. 116-129. Date of Electronic Publication: 2024 Oct 24.
Autor:
Chen X; Chronic Disease Research Institute, The Children's Hospital, National Clinical Research Center for Child Health, School of Public Health, School of Medicine, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang 310058, China; Department of Nutrition and Food Hygiene, School of Public Health, Zhejiang University, Hangzhou, Zhejiang, China; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Dou Z; Department of Molecular Genetics, University of Toronto, Program in Developmental & Stem Cell Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada., Son JE; Department of Molecular Genetics, University of Toronto, Program in Developmental & Stem Cell Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada; School of Food Science and Biotechnology, Kyungpook National University, Daegu 41566, Korea., Duan M; Chronic Disease Research Institute, The Children's Hospital, National Clinical Research Center for Child Health, School of Public Health, School of Medicine, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang 310058, China; Department of Nutrition and Food Hygiene, School of Public Health, Zhejiang University, Hangzhou, Zhejiang, China., Yang F; Chronic Disease Research Institute, The Children's Hospital, National Clinical Research Center for Child Health, School of Public Health, School of Medicine, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang 310058, China; Department of Nutrition and Food Hygiene, School of Public Health, Zhejiang University, Hangzhou, Zhejiang, China., Zhu S; Chronic Disease Research Institute, The Children's Hospital, National Clinical Research Center for Child Health, School of Public Health, School of Medicine, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang 310058, China; Department of Nutrition and Food Hygiene, School of Public Health, Zhejiang University, Hangzhou, Zhejiang, China; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address: zsk@zju.edu.cn., Hui CC; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Program in Developmental & Stem Cell Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada. Electronic address: cchui@sickkids.ca.
Publikováno v:
Bone [Bone] 2025 Jan; Vol. 190, pp. 117282. Date of Electronic Publication: 2024 Oct 12.
Autor:
Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Brix N; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Public Health, Research Unit for Epidemiology, Aarhus University, Aarhus, Denmark., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Farholt S; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Rigshospitalet, Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen, Denmark., Rubak S; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Center for Paediatric Pulmonology and Allergology, Department of Child and Adolescent Health, AUH, Aarhus, Denmark., Bjerre J; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark., Piticchio SG; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Hellfritzsch MB; Department of Radiology, AUH, Aarhus, Denmark., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 78-82. Date of Electronic Publication: 2024 Sep 06.
Autor:
Brugnoli C; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Rizzi S; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Cesaroni CA; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Spagnoli C; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Pregnolato G; R&I Genetics, Padova, Italy., Caraffi SG; Struttura Complessa di Genetica Medica, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Napoli M; Struttura Semplice Dipartimentale di Neuroradiologia, Dipartimento di Diagnostica per Immagini e Medicina di Laboratorio, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Pascarella R; Struttura Semplice Dipartimentale di Neuroradiologia, Dipartimento di Diagnostica per Immagini e Medicina di Laboratorio, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Zuntini R; Struttura Complessa di Genetica Medica, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Peluso F; Struttura Complessa di Genetica Medica, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garavelli L; Struttura Complessa di Genetica Medica, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Chiarotto E; R&I Genetics, Padova, Italy., Leon A; R&I Genetics, Padova, Italy., Frattini D; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Fusco C; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63848. Date of Electronic Publication: 2024 Sep 05.
Autor:
Penon-Portmann M; University of California, San Francisco, San Francisco, California, USA.; University of Washington, Seattle, Washington, USA., Naugle K; University of California, San Francisco, San Francisco, California, USA.; University of California, San Diego, La Jolla, California, USA., Brodie F; University of California, San Francisco, San Francisco, California, USA., Schallhorn J; University of California, San Francisco, San Francisco, California, USA., Griggs P; University of Washington, Seattle, Washington, USA.; Northwest Eye Surgeons, Seattle, Washington, USA., So J; University of California, San Francisco, San Francisco, California, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63846. Date of Electronic Publication: 2024 Aug 21.
Autor:
Wang Z; Department of Cardiology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, China., Wu H; Department of General Surgery, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, China. Electronic address: wuhan-2015@outlook.com.
Publikováno v:
Annals of vascular surgery [Ann Vasc Surg] 2025 Jan; Vol. 110 (Pt B), pp. 295-305. Date of Electronic Publication: 2024 Aug 07.