المؤلفون: İnci A; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey., Cengiz B; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey., Biberoğlu G; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey., Okur İ; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey., Arhan E; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey., Öner AY; Faculty of Medicine, Department of Radiology, Gazi University, Ankara, Turkey., Kasapkara ÇS; Yıldırım Beyazıt University, Department of Metabolic Disorders, Ankara, Turkey., Küçükçongar A; Ankara City Hospital, Department of Metabolic Disorders, Ankara, Turkey., Tümer L; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey., Ezgu F; Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2739-2747. Date of Electronic Publication: 2021 May 07.

نوع المنشور: Case Reports; Journal Article

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: Genetic Markers* , Mutation*, Abnormalities, Multiple/*diagnosis , Congenital Disorders of Glycosylation/*diagnosis , High-Throughput Nucleotide Sequencing/*methods , Nervous System Diseases/*diagnosis, Abnormalities, Multiple/genetics ; Child ; Child, Preschool ; Congenital Disorders of Glycosylation/complications ; Congenital Disorders of Glycosylation/genetics ; Female ; Glycosylation ; Humans ; Infant ; Male ; Nervous System Diseases/complications ; Nervous System Diseases/genetics

المؤلفون: Allen, Elizabeth S, Yang, Bing, Garrett, Jodi, Ball, Edward D, Maiers, Martin, Morris, Gerald P

المصدر: Human Immunology. 79(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Regenerative Medicine, Transplantation, Stem Cell Research, Biotechnology, Stem Cell Research - Nonembryonic - Human, Genetics, Clinical Research, Alleles, Genotype, Genotyping Techniques, HLA Antigens, Hematopoietic Stem Cell Transplantation, High-Throughput Nucleotide Sequencing, Histocompatibility Testing, Humans, Reproducibility of Results, Transplantation, Homologous, Unrelated Donors, HLA, Next-generation DNA sequencing, Hematopoietic stem cell transplantation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6db932jw

المؤلفون: Schloss JA; Rockville, Maryland 20850, USA; email: scalja1@gmail.com., Gibbs RA; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; email: agibbs@bcm.edu., Makhijani VB; Roche Molecular Solutions, Tucson, Arizona 85755, USA; email: vinod.makhijani@roche.com., Marziali A; Boreal Genomics, Vancouver, British Columbia V6T 1Z3, Canada.; Department of Physics and Astronomy, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada; email: andre@phas.ubc.ca.

المصدر: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2020 Aug 31; Vol. 21, pp. 117-138. Date of Electronic Publication: 2020 Apr 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Annual Reviews Country of Publication: United States NLM ID: 100911346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-293X (Electronic) Linking ISSN: 15278204 NLM ISO Abbreviation: Annu Rev Genomics Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Human Genome Project*, High-Throughput Nucleotide Sequencing/*methods , Sequence Analysis, DNA/*methods, Humans

المؤلفون: Butt E; Histopathology Division, Al-Noor Specialty Hospital, Makkah, Makkah, Saudi Arabia., Alyami S; Department of Medical Genetics, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia., Nageeti T; Department of Radiation Oncology, King Abdullah Medical City, Makkah, Makkah, Saudi Arabia., Saeed M; Faculty of Medicine, Umm-Al-Qura University and Al-Noor Specialty Hospital, Makkah, Makkah, Saudi Arabia., AlQuthami K; Department of Laboratory Medicine and Blood Bank, Al-Noor Specialty Hospital, Makkah, Makkah, Saudi Arabia., Bouazzaoui A; Department of Medical Genetics and Science and Technology Unit, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia., Athar M; Department of Medical Genetics and Science and Technology Unit, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia., Abduljaleel Z; Department of Medical Genetics and Science and Technology Unit, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia., Al-Allaf F; Department of Medical Genetics and Science and Technology Unit, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia., Taher M; Department of Medical Genetics and Science and Technology Unit, Umm-Al-Qura University, Makkah, Makkah, Saudi Arabia.

المصدر: F1000Research [F1000Res] 2019 May 02; Vol. 8, pp. 613. Date of Electronic Publication: 2019 May 02 (Print Publication: 2019).

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

بيانات الدورية: Publisher: F1000 Research Ltd Country of Publication: England NLM ID: 101594320 Publication Model: eCollection Cited Medium: Internet ISSN: 2046-1402 (Electronic) Linking ISSN: 20461402 NLM ISO Abbreviation: F1000Res Subsets: MEDLINE

مواضيع طبية MeSH: DNA Mutational Analysis* , High-Throughput Nucleotide Sequencing*, Brain Neoplasms/*genetics , Ependymoma/*genetics, Humans ; Mutation

المؤلفون: Snetsinger B; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada., Ferrone CK; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada., Rauh MJ; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada. michael.rauh@queensu.ca.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2019; Vol. 2045, pp. 167-180.

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

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Aging/*genetics , Hematopoiesis/*genetics , Hematopoietic Stem Cells/*metabolism , High-Throughput Nucleotide Sequencing/*methods , Neoplasms/*genetics, Adult ; Atherosclerosis/blood ; Atherosclerosis/genetics ; Clonal Evolution/genetics ; Genome, Human ; Humans ; Mutation ; Neoplasms/blood ; Polymerase Chain Reaction ; Risk Factors ; Workflow

المؤلفون: Lowden MJ; Human Health Therapeutics Research Centre, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, Canada, K1A 0R6., Henry KA; Human Health Therapeutics Research Centre, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, Canada, K1A 0R6.

المصدر: BioTechniques [Biotechniques] 2018 Dec; Vol. 65 (6), pp. 351-356.

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

بيانات الدورية: Publisher: Future Science Country of Publication: England NLM ID: 8306785 Publication Model: Print Cited Medium: Internet ISSN: 1940-9818 (Electronic) Linking ISSN: 07366205 NLM ISO Abbreviation: Biotechniques

مواضيع طبية MeSH: Cell Surface Display Techniques/*methods , High-Throughput Nucleotide Sequencing/*methods , Single-Domain Antibodies/*genetics, Amino Acid Sequence ; Animals ; Base Sequence ; Camelids, New World ; Cell Surface Display Techniques/economics ; High-Throughput Nucleotide Sequencing/economics ; Humans ; Nanopores ; Peptide Library ; Sequence Alignment ; Single-Domain Antibodies/chemistry ; Time Factors

المؤلفون: Henry KA; Human Health Therapeutics Portfolio, National Research Council Canada, 100 Sussex Drive, Ottawa, ON, Canada, K1A 0R6. kevin.henry@nrc-cnrc.gc.ca.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1701, pp. 425-446.

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

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Gene Library* , Peptide Library*, High-Throughput Nucleotide Sequencing/*methods , Single-Domain Antibodies/*genetics, Animals ; Camelids, New World ; Humans ; Mice

المؤلفون: Ellis JE; Fry Laboratories, L.L.C., 15720 N. Greenway-Hayden Loop STE 3, Scottsdale, AZ 85260, United States., Missan DS; Fry Laboratories, L.L.C., 15720 N. Greenway-Hayden Loop STE 3, Scottsdale, AZ 85260, United States., Shabilla M; Fry Laboratories, L.L.C., 15720 N. Greenway-Hayden Loop STE 3, Scottsdale, AZ 85260, United States., Martinez D; Fry Laboratories, L.L.C., 15720 N. Greenway-Hayden Loop STE 3, Scottsdale, AZ 85260, United States., Fry SE; Fry Laboratories, L.L.C., 15720 N. Greenway-Hayden Loop STE 3, Scottsdale, AZ 85260, United States. Electronic address: medicaldirector@frylabs.com.

المصدر: Journal of microbiological methods [J Microbiol Methods] 2017 Jul; Vol. 138, pp. 12-19. Date of Electronic Publication: 2016 Sep 19.

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

بيانات الدورية: Publisher: Elsevier Biomedical Country of Publication: Netherlands NLM ID: 8306883 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8359 (Electronic) Linking ISSN: 01677012 NLM ISO Abbreviation: J Microbiol Methods Subsets: MEDLINE

مواضيع طبية MeSH: Bacteria/*classification , Bacteria/*genetics , Communicable Diseases/*diagnosis , High-Throughput Nucleotide Sequencing/*methods , Sequence Analysis, DNA/*methods, DNA/analysis ; Diagnosis, Computer-Assisted ; Humans ; Limit of Detection ; RNA, Ribosomal, 16S/genetics

المؤلفون: Quaynor SD; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; University of Chicago, Department of Neurology, Chicago, IL, United States., Bosley ME; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States., Duckworth CG; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States., Porter KR; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States., Kim SH; Molecular Cell Sciences Research Centre, St. George's Medical School, University of London, London, UK., Kim HG; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, United States., Chorich LP; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, United States., Sullivan ME; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, United States., Choi JH; Department of Biostatistics and Epidemiology, Medical College of Georgia, Augusta University, Augusta, GA, United States., Cameron RS; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, United States., Layman LC; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, United States; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, GA, United States. Electronic address: lalayman@augusta.edu.

المصدر: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2016 Dec 05; Vol. 437, pp. 86-96. Date of Electronic Publication: 2016 Aug 05.

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

بيانات الدورية: Publisher: North Holland Publishing Country of Publication: Ireland NLM ID: 7500844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8057 (Electronic) Linking ISSN: 03037207 NLM ISO Abbreviation: Mol Cell Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, High-Throughput Nucleotide Sequencing/*methods , Hypogonadism/*genetics , Kallmann Syndrome/*genetics, Female ; Humans ; Male ; Mutation/genetics ; Pedigree ; Phenotype

المؤلفون: Henry KA; Human Health Therapeutics Portfolio, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, CanadaK1A 0R6., Hussack G; Human Health Therapeutics Portfolio, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, CanadaK1A 0R6., Collins C; Human Health Therapeutics Portfolio, National Research Council Canada, 6100 Royalmount Avenue, Montreal, Quebec, CanadaH4P 2R2., Zwaagstra JC; Human Health Therapeutics Portfolio, National Research Council Canada, 6100 Royalmount Avenue, Montreal, Quebec, CanadaH4P 2R2., Tanha J; Human Health Therapeutics Portfolio, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, Canada K1A 0R6.; School of Environmental Sciences, Ontario Agricultural College, University of Guelph, 50 Stone Road East, Guelph, Ontario, Canada N1G 2W1.; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, 75 Laurier Avenue East, Ottawa, Ontario, Canada K1H 8M5., MacKenzie CR; Human Health Therapeutics Portfolio, National Research Council Canada, 100 Sussex Drive, Ottawa, Ontario, Canada K1A 0R6.; School of Environmental Sciences, Ontario Agricultural College, University of Guelph, 50 Stone Road East, Guelph, Ontario, Canada N1G 2W1.

المصدر: Protein engineering, design & selection : PEDS [Protein Eng Des Sel] 2016 Oct; Vol. 29 (10), pp. 439-443. Date of Electronic Publication: 2016 Sep 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101186484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-0134 (Electronic) Linking ISSN: 17410126 NLM ISO Abbreviation: Protein Eng Des Sel Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Sequence Analysis, DNA*, Epitopes/*immunology , Single-Domain Antibodies/*genetics , Single-Domain Antibodies/*immunology , Transforming Growth Factor beta/*immunology, Animals ; Antibodies, Neutralizing/genetics ; Antibodies, Neutralizing/immunology ; Antibody Specificity ; Camelids, New World/immunology ; Male ; Protein Stability