المؤلفون: Ain, NU, Muhammad, N, Dianatpour, M, Baroncelli, M, Iqbal, M, Fard, MAF, Bukhari, I, Ahmed, S, Hajipour, M, Tabatabaie, Z, Foroutan, H, Nilsson, O, Faghihi, MA, Makitie, O, Naz, S

المصدر: Human mutation. 42(1):89-101

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145258144

المؤلفون: Zhand S; School of Biomedical Engineering, University of Technology Sydney, Sydney, New South Wales 2007, Australia., Razmjou A; UNESCO Centre for Membrane Science and Technology, School of Chemical Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia.; Department of Biotechnology, Faculty of Advanced Sciences and Technologies, University of Isfahan, Isfahan 73441-81746, Iran., Azadi S; School of Engineering, Macquarie University, Sydney, New South Wales 2109, Australia., Bazaz SR; School of Biomedical Engineering, University of Technology Sydney, Sydney, New South Wales 2007, Australia.; Institute for Biomedical Materials and Devices, Faculty of Science, University of Technology Sydney, Sydney, New South Wales 2007, Australia., Shrestha J; School of Biomedical Engineering, University of Technology Sydney, Sydney, New South Wales 2007, Australia., Jahromi MAF; School of Biomedical Engineering, University of Technology Sydney, Sydney, New South Wales 2007, Australia.; School of Engineering, Macquarie University, Sydney, New South Wales 2109, Australia., Warkiani ME; School of Biomedical Engineering, University of Technology Sydney, Sydney, New South Wales 2007, Australia.; Institute for Biomedical Materials and Devices, Faculty of Science, University of Technology Sydney, Sydney, New South Wales 2007, Australia.; Institute of Molecular Medicine, Sechenov First Moscow State University, Moscow 119991, Russia.

المصدر: ACS applied bio materials [ACS Appl Bio Mater] 2020 Jul 20; Vol. 3 (7), pp. 4148-4158. Date of Electronic Publication: 2020 Jun 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: ACS Publications Country of Publication: United States NLM ID: 101729147 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2576-6422 (Electronic) Linking ISSN: 25766422 NLM ISO Abbreviation: ACS Appl Bio Mater Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California., Dastsooz H; Department of Life Sciences and Systems Biology, Italian Institute for Genomic Medicine (IIGM), University of Turin, Turin, Italy.; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Silawi M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Jahan SB; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Fard MAF; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Raymond K; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota., Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California.; Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford, California., Tabatabaei Z; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Taghipour-Sheshdeh A; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Faghihi MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, Florida., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Jul; Vol. 43 (4), pp. 871-879. Date of Electronic Publication: 2020 Feb 23.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation/*genetics , Fucose/*metabolism , Fucosyltransferases/*genetics , Polysaccharides/*metabolism, Congenital Disorders of Glycosylation/metabolism ; Female ; Fucosyltransferases/deficiency ; Humans ; Male ; Mass Spectrometry ; Phenotype ; Exome Sequencing

المؤلفون: Esmaeilzadeh H; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz, Shiraz, Iran., Bordbar MR; Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Dastsooz H; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran.; Italian Institute for Genomic Medicine (IIGM), University of Turin, Turin, Italy., Silawi M; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran., Fard MAF; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran., Adib A; Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Kafashan A; Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz, Shiraz, Iran., Tabatabaei Z; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran., Sadeghipour F; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran., Faghihi MA; Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran. MFaghihi@med.miami.edu.; Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA. MFaghihi@med.miami.edu.

المصدر: BMC medical genetics [BMC Med Genet] 2018 Jul 20; Vol. 19 (1), pp. 123. Date of Electronic Publication: 2018 Jul 20.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Colitis/*genetics , Mutation/*genetics , RNA Splice Sites/*genetics , Wiskott-Aldrich Syndrome/*genetics , Wiskott-Aldrich Syndrome Protein/*genetics, Exons/genetics ; Humans ; Infant ; Inflammatory Bowel Diseases/genetics ; Iran ; Male ; Proteins/genetics ; Thrombocytopenia/genetics

المؤلفون: Dastsooz H; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Nemati H; Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. nematih@sums.ac.ir., Fard MAF; Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran., Fardaei M; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran., Faghihi MA; Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA. MFaghihi@med.miami.edu.

المصدر: BMC medical genetics [BMC Med Genet] 2017 Aug 18; Vol. 18 (1), pp. 87. Date of Electronic Publication: 2017 Aug 18.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Group VI Phospholipases A2/*genetics , Neurodegenerative Diseases/*genetics , Phosphotransferases (Alcohol Group Acceptor)/*genetics, Amino Acid Sequence ; Brain/diagnostic imaging ; Child ; DNA Mutational Analysis ; Dyskinesias/diagnosis ; Dyskinesias/genetics ; Dystonia/diagnosis ; Dystonia/genetics ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Gene Regulatory Networks ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Muscle Weakness/diagnosis ; Muscle Weakness/genetics ; Neurodegenerative Diseases/diagnosis ; Polymorphism, Genetic