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1دورية أكاديمية
المؤلفون: Elisa Calì, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Faqeih, Emilia K. Bijlsma, Kristen Wigby, Diana Baralle, Mohammad Yahya Vahidi Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn C. Jones, Dmitriy Niyazov, Jennifer Jacober, Rebecca O. Littlejohn, Denisa Weis, Neda Zadeh, Lance H. Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra‐Clarke, Gabriella Horváth, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto‐van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya Ebrahimi Nasab, A. Gulhan Ercan‐Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stéphanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada M.H. Abdel‐Salam, Megan Li, Mario Bengala, Amelie J. Müller, María Cristina Digilio
مصطلحات موضوعية: Protein Arginine Methylation in Mammals, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epigenetic Modifications and Their Functional Implications, Protein Arginine Methyltransferases, Brachydactyly, Short stature, Autism spectrum disorder, Hypotonia, Global developmental delay, Neurodevelopmental disorder, Intellectual disability, Craniofacial, Craniofacial abnormality, Medicine, Genetics, FOS Biological sciences, Pediatrics, Psychology, FOS Psychology, Phenotype, Autism, Biology, Psychiatry, Gene
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المؤلفون: Henrike L. Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B. Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G. Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann
مصطلحات موضوعية: Cancer Research, Genetics, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f4c30e125d8e7b4b33e25f77fcc089Test
http://edoc.mdc-berlin.de/23362/1/23362oa.pdfTest -
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المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest -
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المؤلفون: Mohammad Mehdi Heidari, Seyed Mohammad Seyedhassani, Mehri Khatami, Mozhgan Sheikholeslami, Mahdieh Yavari
المصدر: Human fertility (Cambridge, England). 22(3)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Abortion, Habitual, Genotype, 030209 endocrinology & metabolism, Renin-Angiotensin System, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Polymorphism (computer science), Pregnancy, Internal medicine, Renin–angiotensin system, medicine, Humans, Genetic Predisposition to Disease, Gene, 030219 obstetrics & reproductive medicine, Polymorphism, Genetic, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Endocrinology, Reproductive Medicine, Female, business, Complication
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14652fdf9b048705c7b42825f4454472Test
https://pubmed.ncbi.nlm.nih.gov/29057680Test -
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المؤلفون: Vahid Reza Yassaee, Seyed Mohammad Seyedhassani, Fahimeh Harazi, Mahdieh Yavari, Feyzollah Hashemi-Gorji
المصدر: Fetal and pediatric pathology. 35(5)
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genetic counseling, 030105 genetics & heredity, Iran, Pathology and Forensic Medicine, Frameshift mutation, Tacrolimus Binding Proteins, 03 medical and health sciences, medicine, Inheritance Patterns, Humans, Child, Frameshift Mutation, Kyphoscoliosis, Genetics, Genetic heterogeneity, business.industry, General Medicine, Osteogenesis Imperfecta, medicine.disease, Osteogenesis imperfecta, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33c3aed49210d420dd8f7ef52a65cefTest
https://pubmed.ncbi.nlm.nih.gov/27362741Test -
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المصدر: Clinica chimica acta; international journal of clinical chemistry. 450
مصطلحات موضوعية: Proband, Adult, Male, Models, Molecular, Adolescent, Protein Conformation, Genetic counseling, Clinical Biochemistry, Molecular Sequence Data, Mutation, Missense, Prenatal diagnosis, Biochemistry, Mucopolysaccharidosis Type IVA, Exon, Medicine, Missense mutation, Humans, Amino Acid Sequence, Child, Genetics, business.industry, Sulfatase, Biochemistry (medical), Mucopolysaccharidosis IV, General Medicine, Chondroitinsulfatases, Pedigree, Phenotype, Mutation (genetic algorithm), Female, sense organs, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::619d06f91b027b32b863dc9e5c865c63Test
https://pubmed.ncbi.nlm.nih.gov/26276046Test -
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المؤلفون: Zahra Hadipour, Massoud Houshmand, Feyzollah Hashemi-Gorji, Abbas Aflatoonian, Seyed Mohammad Seyedhassani, Seyed Mehdi Kalantar, Glayol Modabber
المصدر: Archives of Medical Science : AMS
مصطلحات موضوعية: Pregnancy, business.industry, Apoptotic gene, apoptosis, General Medicine, Abortion, Bioinformatics, medicine.disease, polymorphism, Clinical Research, BAX, Apoptosis, Polymorphism (computer science), medicine, repeated pregnancy loss, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c0b6d28be701acb8ab5600d333a6feTest
https://doi.org/10.5114/aoms.2011.20614Test -
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المؤلفون: Glayol Modabber, Abbas Aflatoonian, Massoud Houshmand, Seyed Mehdi Kalantar, Seyed Mohammad Seyedhassani
المصدر: Journal of Assisted Reproduction and Genetics. 27:641-648
مصطلحات موضوعية: Abortion, Habitual, Mitochondrial DNA, Pregnancy, Point mutation, Obstetrics and Gynecology, Embryo, Sequence Analysis, DNA, General Medicine, Mitochondrion, Biology, medicine.disease, DNA, Mitochondrial, Molecular biology, Human genetics, D-loop, Reproductive Medicine, Apoptosis, Genetics, medicine, Humans, Point Mutation, Female, Genetics (clinical), Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db39f76418bb4e4bd114b4a5d8af4e0dTest
https://doi.org/10.1007/s10815-010-9435-2Test -
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المؤلفون: Seyed Mohammad Seyedhassani, Ahoora Arasteh, Behnam Kamalidehghan, Abasalt Hosseinzadeh Colagar, Maryam Mohajerani, Elaheh Mosaieby, Massoud Houshmand
المصدر: Mitochondrial DNA. 24(5)
مصطلحات موضوعية: Adult, Mitochondrial DNA, Abortion, Habitual, Adolescent, Sequence analysis, Mutation, Missense, Biology, Iran, medicine.disease_cause, DNA, Mitochondrial, Polymorphism, Single Nucleotide, law.invention, chemistry.chemical_compound, Young Adult, law, Polymorphism (computer science), Pregnancy, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Gene, Polymerase chain reaction, Mutation, Electron Transport Complex I, Base Sequence, Molecular biology, chemistry, Case-Control Studies, Embryo Loss, Female, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0993c51b0b5bcec60bc2c920897f7383Test
https://pubmed.ncbi.nlm.nih.gov/23464625Test