المؤلفون: Kornelia Tripolszki, Melina Bilinski, Matthias Bieg, Anett Marais, Catarina Pereira, Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich, Krishna Kumar Kandaswamy, Jorge Pinto-Basto, Peter Bauer, Omid Paknia

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101520- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006666; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/a6ec8e4e90ee4089a2d63adadc258d2e

المؤلفون: Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Neurodevelopmental disorders, De novo variants, Trio exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s11689-019-9270-4; https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/2826930482f34a698b26ee6b0e414fb7

المؤلفون: Khader Shameer, Ganesan Pugalenthi, Krishna Kumar Kandaswamy, Ponnuthurai N. Suganthan, Govindaraju Archunan, Ramanathan Sowdhamini

المصدر: Bioinformatics and Biology Insights, Vol 2010, Iss 4, Pp 33-42 (2010)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://la-press.com/insights-into-protein-sequence-and-structure-derived-features-mediatin-a2124; https://doaj.org/toc/1177-9322

URL الوصول: https://doaj.org/article/3123a37e37484735a9e38a2e62ae722a

المؤلفون: Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen

المصدر: Genetics in Medicine

مصطلحات موضوعية: Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485
https://doi.org/10.1038/s41436-021-01159-0

المؤلفون: Lena Sagi-Dain, Martje G. Pauly, Chiung C. Chen, Niccolo E. Mencacci, Shey Lin Wu, Inge A. Meijer, Aida M. Bertoli-Avella, Krishna Kumar Kandaswamy, Steven J. Lubbe, Celeste Panteghini, Wim Mandemakers, Christine Klein, Nicolas Marotta, Katja Lohmann, Peter Bauer, Andrea A. Kühn, Baiba Lace, Vincenzo Bonifati, Tu Hsueh Yeh, Chin Song Lu, Miryam Carecchio, Antonio E. Elia, Christina Fevga, Yah Huei Wu-Chou, Yi Hsin Weng, Vera Tadic, Bradley Osterman, Marialuisa Quadri, Barbara Garavaglia, Simone Olgiati, Guido J. Breedveld, Jens Volkmann, Hsiu Chen Chang, Demy J.S. Kuipers

المساهمون: Clinical Genetics

المصدر: Annals of Neurology
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Mutation, Missense, Biology, White People, 03 medical and health sciences, symbols.namesake, Young Adult, eIF-2 Kinase, 0302 clinical medicine, Asian People, Genetic linkage, Exome Sequencing, medicine, Missense mutation, Humans, Age of Onset, Protein kinase A, Child, Exome, Research Articles, Dystonia, Sanger sequencing, Genetics, Kinase, Brain, Infant, Fibroblasts, Middle Aged, medicine.disease, Protein kinase R, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Neurology, Dystonic Disorders, Child, Preschool, symbols, Female, Neurology (clinical), 030217 neurology & neurosurgery, Genome-Wide Association Study, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad9001fedfb5482325a6cdaee2b2cb6
http://www.scopus.com/inward/record.url?scp=85097551907&partnerID=8YFLogxK

المؤلفون: Najim Ameziane, Dan Diego-Alvarez, Wafaa Eyaid, Nouriya Al-Sannaa, Catarina Pereira, Ahmed Alfares, Aida M. Bertoli-Avella, Jozef Hertecant, Pilar Guatibonza, Abdulrahman Alswaid, Susan Zielske, Arndt Rolfs, María Calvo, Marius-Ionuț Iurașcu, Aisha M. Al-Shamsi, Yasemin Alanay, Florian Vogel, Christian Beetz, Peter Bauer, Krishna Kumar Kandaswamy, Monica Segura-Castel, Amal Alhashem, Kapil Kampe, Maria Eugenia Rocha, Willie Reardon, Majid Alfadhel, Dimitar Ugrinovski, Michal Zawada, Gitte Warnack, Mohammed AlBalwi, Martin Werber, Claudia Cozma, Omid Paknia, Fuad Al Mutairi, Natalia Herrera-Ordonez

المساهمون: Acibadem University Dspace

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Oncology, 0303 health sciences, medicine.medical_specialty, Diagnostic methods, business.industry, 030305 genetics & heredity, Genomics, Article, DNA sequencing, 03 medical and health sciences, Unknown Significance, RNA analysis, Internal medicine, Genetics research, Cohort, Genetics, medicine, Biomarker (medicine), Medical diagnosis, business, Genetics (clinical), Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf3a013010721b2cab723dbdc82cadf
https://doi.org/10.1038/s41431-020-00713-9

المؤلفون: Tainá Regina Damaceno Silveira, Aida M. Bertoli-Avella, Arndt Rolfs, Daíse Moreno Sás, Willie Reardon, Peter Bauer, Charles Marques Lourenço, Maria Eugenia Rocha, Erina Sasaki, Christian Beetz, Krishna Kumar Kandaswamy

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, Genetics of the nervous system, Developmental Disabilities, Nerve Tissue Proteins, Neurological disorder, Disease, Article, 03 medical and health sciences, Loss of Function Mutation, X Chromosome Inactivation, Intellectual Disability, Genetics research, Intellectual disability, Genetics, medicine, Humans, Family history, Genetics (clinical), Exome sequencing, 030304 developmental biology, Hemizygote, 0303 health sciences, Genetic heterogeneity, business.industry, Neurodevelopmental disorders, 030305 genetics & heredity, Nuclear Proteins, Middle Aged, medicine.disease, Molecular diagnostics, Pedigree, 3. Good health, Phenotype, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3d27ba733d52194fe33b122bbd5bfd
https://doi.org/10.1038/s41431-019-0558-3

المؤلفون: Valerija Dobricic, Christine Klein, Marija Dulovic-Mahlow, Katja Lohmann, Alexander Münchau, Sophie Imhoff, Krishna Kumar Kandaswamy, Jochen Schäfer, Vera Tadic, Norbert Brüggemann, Arndt Rolfs, Joanne Trinh, Martin Werber, Achim Nolte

المصدر: Journal of Neurology. 267:770-782

مصطلحات موضوعية: Male, Niacinamide, Psychosis, medicine.medical_specialty, Neurology, Ubiquinone, Mutation, Missense, Racemases and Epimerases, Compound heterozygosity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, 030212 general & internal medicine, Exome sequencing, Cerebellar ataxia, business.industry, Brain Diseases, Metabolic, Inborn, medicine.disease, Phenotype, Pedigree, 3. Good health, Endocrinology, Neurodevelopmental Disorders, Female, Neurology (clinical), NAD(P)H-Hydrate Epimerase, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204520356113a36b937eb0f29a0cae2d
https://doi.org/10.1007/s00415-019-09640-2

المؤلفون: Arndt Rolfs, Nadia Al-Hashmi, Omid Paknia, Ana Westenberger, Moenaldeen AlSayed, Christian Beetz, Najim Ameziane, Peter Bauer, Krishna Kumar Kandaswamy, Ruslan Al-Ali, Volha Skrahina, Rose-Mary Boustany, Zuhair N. Al-Hassnan, Fuad Al Mutairi, Majid Alfadhel

المصدر: Movement Disorders

مصطلحات موضوعية: business.industry, MEDLINE, Regular Issue Articles, Protein Serine-Threonine Kinases, Bioinformatics, Letters: New Observations, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, LRRK2, Phenotype, Rare Diseases, Neurology, Medicine, Humans, In patient, Neurology (clinical), business, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c4c3a9f2b4ea52a1625572059fb04d
http://europepmc.org/articles/PMC8248088

المؤلفون: Victor Krajka, Arndt Rolfs, Joanne Trinh, Rami Abou Jamra, Kristian Tveten, Geir J. Braathen, Rabea Affan, Mohammed Al Balwi, Frauke Hinrichs, Øystein L. Holla, Marija Dulovic-Mahlow, Maximilian E. R. Weiss, Nataliya Di Donato, Shivendra Kishore, Skadi Beblo, Martin Werber, Krishna Kumar Kandaswamy, Elisa Rahikkala, Katja Lohmann, Nouriya Al-Sannaa, Øyvind L. Busk, Gabriela Oprea, Hauke Baumann, Nir Navot, Anne-Karin Kahlert, Melissa Vos

المصدر: The American Journal of Human Genetics. 105:213-220

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Mutant, Protein Serine-Threonine Kinases, Mitochondrion, Biology, Serine, 03 medical and health sciences, 0302 clinical medicine, Mutation Carrier, Report, Exome Sequencing, Genetics, Animals, Humans, Exome, Child, Gene, Genetics (clinical), Gene knockdown, Kinase, fungi, Phenotype, Drosophila melanogaster, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a1c3003604ddf1836c9655987c0557
https://doi.org/10.1016/j.ajhg.2019.05.005