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1دورية أكاديمية
المؤلفون: Dana A. Muin, Martina Kollmann, Jasmin Blatterer, Gregor Hoermann, Peter W. Husslein, Ingrid Lafer, Erwin Petek, Thomas Schwarzbraun
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
مصطلحات موضوعية: frameshift mutation, homozygosity mapping, Pakistani family, xeroderma pigmentosum, XPC, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3دورية أكاديمية
المؤلفون: Erwin Petek, Peter M. Kroisel, Klaus Wagner
المصدر: BioTechniques, Vol 23, Iss 1, Pp 72-77 (1997)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Christian Enzinger, Jasmin Blatterer, Christian Windpassinger, Saadullah Khan, Klaus Wagner, Safeer Ahmad, Muhammad Zeeshan Ali, Muzammil Ahmad Khan, Erwin Petek, Syed Khizar Shah, Sundas Taj, Beatrice A. Brugger, Muhammad Muzammal
المصدر: Metabolic Brain Disease
مصطلحات موضوعية: Male, Intellectual disability, Biochemistry, Frameshift mutation, Cellular and Molecular Neuroscience, symbols.namesake, Consanguinity, medicine, Humans, Pakistan, L2HGDH, Exome, Exome sequencing, Genetics, Sanger sequencing, Cerebellar ataxia, business.industry, Macrocephaly, Whole exome sequencing, Leukoaraiosis, N-terminal frameshift mutation, Brain Diseases, Metabolic, Inborn, Disease gene identification, Alcohol Oxidoreductases, L-2-hydroxyglutaric aciduria, Mutation, symbols, Original Article, Neurology (clinical), medicine.symptom, business
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المؤلفون: Erich, Schaflinger, Jasmin, Blatterer, Aiman Saeed, Khan, Lukas, Kaufmann, Lisa, Auinger, Benjamin, Tatrai, Sumra Wajid, Abbasi, Muhammad, Zeeshan Ali, Ansar Ahmad, Abbasi, Ali, Al Kaissi, Erwin, Petek, Klaus, Wagner, Muzammil, Ahmad Khan, Christian, Windpassinger
المصدر: Gene. 833:146582
مصطلحات موضوعية: Progeria, Lipodystrophy, Mutation, Genetics, Codon, Initiator, Humans, Membrane Proteins, Metalloendopeptidases, General Medicine, Frameshift Mutation, Lamin Type A
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المؤلفون: Gregor Hoermann, Erwin Petek, Jasmin Blatterer, Dana A. Muin, Ingrid Lafer, Thomas Schwarzbraun, M Kollmann, Peter Husslein
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: medicine.medical_specialty, Science, Cardiomyopathy, Pilot Projects, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics research, medicine, Genetics, Humans, Genetic Predisposition to Disease, Fetal Death, Exome sequencing, Retrospective Studies, Fetus, 030219 obstetrics & reproductive medicine, Multidisciplinary, Fetal death, business.industry, Obstetrics, Gestational age, Genetic Variation, Stillbirth, medicine.disease, University hospital, Austria, Cohort, Medicine, Medical genetics, Female, business, Cardiomyopathies
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المؤلفون: Itezaz Younis, Saadullah Khan, Muzammil Ahmad Khan, Christian Windpassinger, Noor Muhammad, Magdalena Wiener, Safdar Abbas, Sundus Taj, Saddam Hussain, Erich Schaflinger, Jamshaid Ahmed, Erwin Petek, Muhammad Abbas, Muhammad Salim
المصدر: JPMA. The Journal of the Pakistan Medical Association. 69(12)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microcephaly, Adolescent, DNA Mutational Analysis, Single-nucleotide polymorphism, Nerve Tissue Proteins, 030105 genetics & heredity, 03 medical and health sciences, symbols.namesake, Young Adult, Gene mapping, Intellectual Disability, medicine, Missense mutation, Humans, Pakistan, Child, Exome sequencing, Genetics, Sanger sequencing, business.industry, General Medicine, medicine.disease, 030104 developmental biology, symbols, Allelic heterogeneity, Female, business, Founder effect
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726cd7eb02ed087850e23b9d7ea68acc
https://pubmed.ncbi.nlm.nih.gov/31853109 -
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المؤلفون: Alexandra Höggerl, Erwin Petek, SH Enzelsberger, Elisabeth Radler, Thomas Ebner, Omar Shebl, Peter Oppelt, Richard Bernhard Mayer
المصدر: Archives of Gynecology and Obstetrics. 296:1199-1205
مصطلحات موضوعية: Male, 0301 basic medicine, Blastomeres, animal structures, Embryonic Development, Biology, Cleavage (embryo), Time-Lapse Imaging, Andrology, 03 medical and health sciences, 0302 clinical medicine, Planar, medicine, Humans, Sperm Injections, Intracytoplasmic, Blastocyst, Retrospective Studies, 030219 obstetrics & reproductive medicine, technology, industry, and agriculture, Obstetrics and Gynecology, Embryo, General Medicine, Blastomere, Anatomy, Embryo Transfer, 030104 developmental biology, medicine.anatomical_structure, embryonic structures, Female
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المؤلفون: Martina Platzer, Armin Birner, Sandra J. Wallner-Liebmann, Bernd Reininghaus, Erwin Petek, Robert Queissner, Bernd O. Evert, Nora Kainzbauer, N. Lackner, Susanne Bengesser, Frederike T. Fellendorf, Eva Z. Reininghaus, Bernhard Tropper, Andreas Waha, Christa Hörmanseder, Mario Schnalzenberger, Robert Fuchs, Hans-Peter Kapfhammer, Christian Windpassinger
المصدر: The World Journal of Biological Psychiatry. 19:S21-S29
مصطلحات موضوعية: Adult, Male, Bipolar Disorder, Adolescent, Lithium, Biology, Polymorphism, Single Nucleotide, Transcription Activation, Epigenesis, Genetic, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Methylation analysis, medicine, Humans, Genetic Predisposition to Disease, Bipolar disorder, Molecular clock, Biological Psychiatry, Aged, Aged, 80 and over, Genetics, ARNTL Transcription Factors, Methylation, DNA Methylation, Middle Aged, medicine.disease, Circadian Rhythm, 030227 psychiatry, ARNTL, CLOCK, Psychiatry and Mental health, Austria, Case-Control Studies, biology.protein, Anticonvulsants, CpG Islands, Female, Monoamine oxidase A, 030217 neurology & neurosurgery
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المؤلفون: Muzammil Ahmad Khan, Safeer Ahmad, Erwin Petek, Christian Windpassinger, Ejazullah Khan, Erich Schaflinger, Muhammad Zeeshan Ali, Jasmin Blatterer
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Xeroderma pigmentosum, lcsh:QH426-470, Positional cloning, Adolescent, frameshift mutation, XPC, 030105 genetics & heredity, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Gene mapping, Loss of Function Mutation, Genetics, medicine, Humans, skin and connective tissue diseases, Child, Molecular Biology, Genetics (clinical), Sanger sequencing, Mutation, Xeroderma Pigmentosum, integumentary system, Pakistani family, nutritional and metabolic diseases, Original Articles, medicine.disease, Disease gene identification, Pedigree, DNA-Binding Proteins, lcsh:Genetics, 030104 developmental biology, homozygosity mapping, symbols, Female, Original Article, Nucleotide excision repair