المؤلفون: Ha T; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA., Morgan A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Bartos MN; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Beatty K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Cogné B; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gerber CB; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kopps AM; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Amor DJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Nizon M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Pasquier L; Service de Génétique Médicale, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Siu VM; London Health Sciences Center and Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Vincent M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Walsh MB; Emory Healthcare, Atlanta, Georgia, USA., Wechsler SB; Departments of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Schnur RE; GeneDx, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Margot H; Université Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Masotto B; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Palafoll MIV; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia., Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63559. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency*/genetics , Language Development Disorders*/genetics , Language Development Disorders*/pathology , Language Development Disorders*/physiopathology, Humans ; Male ; Female ; Child, Preschool ; Child ; Infant ; Phenotype ; Genetic Predisposition to Disease

المؤلفون: Johnson, JL, Stoica, L, Liu, YW, Zhu, PJ, Bhattacharya, A, Buffington, SA, Huq, R, Eissa, NT, Larsson, O, Porse, BT, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, TS, Kim, HG, Brignell, A, Coleman, MJ, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, IE, Amor, DJ, Hildebrand, MS, Bonnen, PE, Beeton, C, Gecz, J, Morgan, AT, Costa-Mattioli, M

المصدر: Neuron. 104(4):665

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142342749

المؤلفون: Padhye BD; Cancer Centre for Children, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Kids Research, Children's Cancer Research Unit, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Nawaz U; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Hains PG; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Reddel RR; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Robinson PJ; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Zhong Q; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Poulos RC; ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Jun; Vol. 71 (6), pp. e30980. Date of Electronic Publication: 2024 Mar 31.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Neoplasms*/genetics , Neoplasms*/therapy , Neoplasms*/metabolism , Proteomics*/methods , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/metabolism, Humans ; Child ; Precision Medicine/methods ; Mass Spectrometry ; Proteome/analysis

المؤلفون: Platt, J. R., Nawaz, U., Coyne, P., Griffiths, B., Brady, R. R. W.^Aff1

المصدر: Techniques in Coloproctology. 24(8):901-902

المؤلفون: Nawaz U; Department of Pharmacology, CMH Kharian Medical College, Kharian, Pakistan., Noor M; Department of Pharmacology, Army Medical College, National University of Medical Sciences, Rawalpindi, Pakistan., Waheed A; Department of Pharmacology, Islamic International Medical College, Rawalpindi, Pakistan.

المصدر: JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2023 Dec; Vol. 73 (12), pp. 2388-2392.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Internet ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Clopidogrel*/therapeutic use , Coronary Artery Disease*/drug therapy , Myocardial Ischemia*/drug therapy , Myocardial Ischemia*/genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Cross-Sectional Studies ; Cytochrome P-450 CYP2C19/genetics ; Cytochrome P-450 CYP2C19/therapeutic use ; Genotype ; Platelet Aggregation Inhibitors/therapeutic use ; Polymorphism, Genetic ; Ticlopidine/therapeutic use ; Treatment Outcome ; Drug Resistance/genetics

المؤلفون: Akhtar R; Department of Mechanical Engineering Technology, University of Gujrat, 50700, Pakistan., Hamza A; Department of Mechanical Engineering Technology, University of Gujrat, 50700, Pakistan., Razzaq L; Department of Mechanical Engineering Technology, University of Gujrat, 50700, Pakistan., Hussain F; Modeling Evolutionary Algorithms Simulation and Artificial Intelligence, Faculty of Electrical & Electronics Engineering, Ton Duc Thang University, Ho Chi Minh City, Viet Nam., Nawaz S; Department of Mechanical, Mechatronic and Manufacturing Engineering, University of Engineering & Technology, Lahore (New Campus), KSK, Sheikhupura, 39350, Pakistan., Nawaz U; Department of Mechanical Engineering Technology, University of Gujrat, 50700, Pakistan., Mukaddas Z; Department of Chemistry, University of Gujrat, 50700, Pakistan., Jauhar TA; Department of Mechanical Engineering Technology, University of Gujrat, 50700, Pakistan., Silitonga AS; Centre for Technology in Water and Wastewater, School of Civil and Environmental Engineering, Faculty of Engineering and Information Technology, University of Technology Sydney, NSW, 2007, Australia.; Center of Renewable Energy, Department of Mechanical Engineering, Politeknik Negeri Medan, 20155, Medan, Indonesia., Saleel CA; Department of Mechanical Engineering, College of Engineering, King Khalid University, Asir, Abha, 61421, Saudi Arabia.

المصدر: Heliyon [Heliyon] 2023 Nov 08; Vol. 9 (11), pp. e22031. Date of Electronic Publication: 2023 Nov 08 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

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المؤلفون: Stewart P; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Patel S; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Comer A; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Muneer S; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Nawaz U; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Quann V; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Bansal M; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA., Venketaraman V; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA 91766, USA.

المصدر: Vaccines [Vaccines (Basel)] 2023 May 06; Vol. 11 (5). Date of Electronic Publication: 2023 May 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101629355 Publication Model: Electronic Cited Medium: Print ISSN: 2076-393X (Print) Linking ISSN: 2076393X NLM ISO Abbreviation: Vaccines (Basel) Subsets: PubMed not MEDLINE