المؤلفون: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: L2HGDH, Mutation, Pakistan, L-2-hydroxyglutaric aciduria, Cerebellar ataxia, Epilepsy, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0532-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/999eb0d5f7ab4cd4bdd30370308b46e8

المؤلفون: Masoud DEHGHAN TEZERJANI, Reza MAROOFIAN, Mohammad Yahya VAHIDI MEHRJARDI, Barry A. CHIOZA, Shiva ZAMANINEJAD, Seyed Mehdi KALANTAR, Mahmoud NORI-SHADKAM, Hamidreza GHADIMI, Emma L. BAPLE, Andrew H. CROSBY, Mohammadreza DEHGHANI

المصدر: Iranian Journal of Public Health, Vol 45, Iss 10, Pp 1359-1366 (2016)

مصطلحات موضوعية: OFD1, Oral-facial-digital syndrome, X-linked dominant, Miscarriage, Ciliopathy, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://ijph.tums.ac.ir/index.php/ijph/article/view/8076; https://doaj.org/toc/2251-6085; https://doaj.org/toc/2251-6093

URL الوصول: https://doaj.org/article/7ff126ae686046a1b202f260221cab15

المؤلفون: Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza

المصدر: PLoS Genetics, Vol 13, Iss 1, p e1006470 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5230738?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/81bcb9893e9543d4aeafbc1e928b8914

المؤلفون: Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin

المصدر: Proceedings of the National Academy of Sciences. 119

مصطلحات موضوعية: Multidisciplinary

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56c9a88fa2335a3b60b5bbd6daecced
https://doi.org/10.1073/pnas.2204084119

المؤلفون: Guney, Bademci, María, Lachgar-Ruiz, Mangesh, Deokar, Mohammad Faraz, Zafeer, Clemer, Abad, Muzeyyen, Yildirim Baylan, Neil J, Ingham, Jing, Chen, Claire J, Sineni, Nirmal, Vadgama, Ioannis, Karakikes, Shengru, Guo, Duygu, Duman, Nitu, Singh, Gaurav, Harlalka, Shirish P, Jain, Barry A, Chioza, Katherina, Walz, Karen P, Steel, Jamal, Nasir, Mustafa, Tekin

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(26)

مصطلحات موضوعية: Stereocilia, Mice, Loss of Function Mutation, Hearing Loss, Sensorineural, Animals, Humans, Receptors, Cell Surface, Receptor, Notch2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::eacbaf761d45a5055cb10b697436b728
https://pubmed.ncbi.nlm.nih.gov/35960848

المؤلفون: Olivia Wenger, Matteo P. Ferla, Ilka Warshawsky, Martin Munteanu, Cas Simons, Matthew Wakeling, Claire G. Salter, Joshua A. Lees, Bernice Lo, Pietro De Camilli, Emma L. Baple, Sara Van Meerbeke, G. Christoph Korenke, Frederico Zara, Barry A. Chioza, Catherine Ward Melver, Manish J. Butte, M. Traverso, Henry Taylor, Marjo S. van der Knaap, Andrew H. Crosby, Matthew Keisling, Joseph S Leslie, Christin Deal, James Fasham, Helen Cox, Ethan M. Scott, Guy Helman, Amber J. McCartney, Yiying Cai, Mamoun Elawad, Tamas Marton, Nicole I. Wolf, Dirk Holzinger, Harold E. Cross, Holm H. Uhlig, Deyana Valcheva, Tamas Balla, Urania Kotzaeridou, Joanna Crawford, Andrea Accogoli, Utkucan Acar, Stephan Tippelt, Dimitris P. Agamanolis, Catherine Walsh Vockley

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Salter, C G, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke, G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, ' Biallelic PI4KA variants cause neurological, intestinal and immunological disease ', Brain, vol. 144, no. 12, pp. 3597-3610 . https://doi.org/10.1093/brain/awab313
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press

مصطلحات موضوعية: Male, Cell type, Primary Immunodeficiency Diseases, Medizin, Intestinal Atresia, Disease, hypomyelinating leukodystrophy, Biology, Inflammatory bowel disease, Polymorphism, Single Nucleotide, Minor Histocompatibility Antigens, chemistry.chemical_compound, medicine, Humans, Phosphatidylinositol, multiple intestinal atresia, Immunodeficiency, Genetics, Kinase, AcademicSubjects/SCI01870, Original Articles, medicine.disease, Phenotype, Pedigree, FAM126A, Hereditary Central Nervous System Demyelinating Diseases, Phosphotransferases (Alcohol Group Acceptor), TTC7A, chemistry, Female, AcademicSubjects/MED00310, Neurology (clinical), PI4KA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4d2ffb57a785b47391a6347add81c
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8

المؤلفون: Hannah Jones, Tom Herr, Lorna W. Harries, Erik G. Puffenberger, Rebecca Evans, Harold E. Cross, Olivia Wenger, Angela Scheid, Ethan M. Scott, Jim Deline, Joanna Kennedy, Emma L. Baple, Lettie E. Rawlins, Zineb Ammous, Ryan M. Ames, Joseph S Leslie, Andrew H. Crosby, Barry A. Chioza

المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
PLoS Genetics

مصطلحات موضوعية: Cell signaling, Cancer Research, Heredity, Gene Expression, Signal transduction, QH426-470, Biochemistry, Homozygosity, Medical Conditions, Neurodevelopmental disorder, Intellectual disability, Gene expression, Medicine and Health Sciences, Global developmental delay, Musculoskeletal System, Genetics (clinical), Genetics, Transcriptional Control, RNA-Binding Proteins, SMAD NUCLEAR INTERACTING PROTEIN 1, Hypotonia, Phenotypes, Neurology, Anatomy, medicine.symptom, Research Article, Cell biology, Spliceosome, SMAD signaling, Genes, Recessive, Biology, Developmental Neuroscience, DNA-binding proteins, medicine, Humans, Gene Regulation, Craniofacial, Molecular Biology, Skeleton, Alleles, Ecology, Evolution, Behavior and Systematics, Skull, Biology and Life Sciences, Proteins, medicine.disease, Regulatory Proteins, Neurodevelopmental Disorders, Amish, Neuroscience, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a1ec8bc51f04bdbc7cf73254007e68
https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca

المؤلفون: Muhammad Ikram Ullah, Tahir N. Khan, Maimoona Siddiqui, Gaurav V. Harlalka, Erica E. Davis, Talia Akram, Zaineb Akram, Chunyu Liu, Muhammad Jameel, Arsalan Ahmad, Kamal Khan, Sarmad Mehmood, Barry A. Chioza, Muhammad Jawad Hassan, Humayoon Shafique Satti, Raees Khan, Emma A. Baple, Andrew H. Crosby, Shahid Mahmood Baig, Belqees Yawar Faiz, Feng Zhang

المصدر: American journal of medical genetics. Part AREFERENCES. 188(2)

مصطلحات موضوعية: Genetics, Weakness, Calpain, Haplotype, Muscle Proteins, Pedigree chart, Biology, Disease gene identification, medicine.disease, Exon, Muscular Dystrophies, Limb-Girdle, RNA splicing, Mutation, medicine, Humans, Pakistan, RNA, Messenger, medicine.symptom, Genetics (clinical), Founder effect, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8396234000a7691c505bb9260affcc45
https://pubmed.ncbi.nlm.nih.gov/34697879

المؤلفون: Jonathan Mill, Eilis Hannon, Shyam Prabhakar, Alice Franklin, Emma Walker, Stefania Policicchio, Aaron R. Jeffries, Joe Burrage, Jinyue Liu, Jonathan P. Davies, Nicholas John Bray, Gina Commin, Barry A. Chioza, Emma Dempster

المصدر: European Neuropsychopharmacology. 51:e59-e60

مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, medicine.anatomical_structure, Neurology, DNA methylation, Cell type specific, medicine, Pharmacology (medical), Neurology (clinical), Human brain, Biology, Biological Psychiatry, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba9ca1c6da5461adac8d17923a810a65
https://doi.org/10.1016/j.euroneuro.2021.07.127

المؤلفون: Jay E. Self, Luke O'Gorman, Andrew H. Crosby, Emma L. Baple, Muhammad Jawad Hassan, Siying Lin, Muhammad Ikram Ullah, Shaheer Sabz Ali, Gaurav V. Harlalka, Sarmad Mehmood, Barry A. Chioza, Muhammad Shakil, Muhammad Salman Shabbir, Chelsea S. Norman, Ilaria D'Atri, Sarah Ennis, Haiba Kaul, Muhammad Arshad, Tahir Aman

المصدر: Meta Gene. 17:48-55

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, OCA2, Genetics, Genetic heterogeneity, Biology, medicine.disease, Oculocutaneous albinism, eye diseases, Frameshift mutation, SNP genotyping, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, symbols, medicine, Missense mutation, Genetics (clinical), Exome sequencing

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be65d1c4ede0c4dcf995ffbcfe7256c8
https://doi.org/10.1016/j.mgene.2018.03.007