المؤلفون: Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson

المصدر: eLife, Vol 4 (2015)

مصطلحات موضوعية: Joubert syndrome, ciliopathy, siRNA, high-content screen, KIAA0586, Talpid3, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/06602Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9Test

المؤلفون: Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin, Maha S. Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A. Normand, Sabine Rudnik‐Schöneborn, Ulrich A. Schatz, Marc P. Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Péter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul–Majeed

مصطلحات موضوعية: Peroxisome Proliferator-Activated Receptors, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Ubiquitin-Proteasome Proteolytic Pathway, Endoplasmic Reticulum Stress and Unfolded Protein Response, Cell Biology, Protein Folding, Dystonia, Microcephaly, Movement disorders, Ataxia, Biology, Hypotonia, Neuroscience, Genetics, FOS Biological sciences, Medicine, Internal medicine, Disease

العلاقة: https://dx.doi.org/10.60692/61d6g-2w638Test

الإتاحة: https://doi.org/10.60692/nm4nh-8aw4210.60692/61d6g-2w638Test

المؤلفون: Qureshi, Matloob Azam

مصطلحات موضوعية: 572, Nitrogen fixation, Supercoiling, DNA unwinding

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318498Test

المؤلفون: John B. Vincent, Ricardo Harripaul, Matloob Azam, Stephen Pastore

المصدر: Journal of Human Genetics. 65:493-496

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, 3. Good health, 03 medical and health sciences, Exon, 030104 developmental biology, Hereditary sensory and autonomic neuropathy, medicine, Allele, Congenital Pain Insensitivity, Genotyping, Genetics (clinical), Exome sequencing, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fcb8b7f5521ff51d435081b3baf204a7Test
https://doi.org/10.1038/s10038-020-0734-xTest

المؤلفون: Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/73146Test

الإتاحة: https://doi.org/10.7554/elife.06602.021Test
https://www.openaccessrepository.it/record/73146Test

المؤلفون: Munazza Saleem , Kiran Israr Shah, Sehrish Mukhtar Cheema , Matloob Azam

المصدر: Journal of Rawalpindi Medical College; Vol. 18 No. 1 (2014): Jan-June ; 1683-3570 ; 1683-3562

وصف الملف: application/pdf

العلاقة: https://www.journalrmc.com/index.php/JRMC/article/view/391/193Test; https://www.journalrmc.com/index.php/JRMC/article/view/391Test

الإتاحة: https://www.journalrmc.com/index.php/JRMC/article/view/391Test

المؤلفون: Munazza Saleem,. Javeria Bhatti, Matloob Azam

المصدر: Journal of Rawalpindi Medical College; Vol. 17 No. 2 (2013): July-Dec ; 1683-3570 ; 1683-3562

العلاقة: https://www.journalrmc.com/index.php/JRMC/article/view/445/1918Test; https://www.journalrmc.com/index.php/JRMC/article/view/445Test

الإتاحة: https://www.journalrmc.com/index.php/JRMC/article/view/445Test

المؤلفون: Stephen, Pastore, Ricardo, Harripaul, Matloob, Azam, John B, Vincent

المصدر: Journal of human genetics. 65(5)

مصطلحات موضوعية: Adult, Male, Mutagenesis, Insertional, Pain Insensitivity, Congenital, WNK Lysine-Deficient Protein Kinase 1, Humans, Family, Pakistan, Hereditary Sensory and Autonomic Neuropathies, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::94ef712480aa2b073333f2b408628666Test
https://pubmed.ncbi.nlm.nih.gov/32127623Test

المؤلفون: Xiaoxu Yang, Martin W. Breuss, Samia A. Temtamy, Joshua D. Green, Matloob Azam, Bryan J. Traynor, Laila Bastaki, Danica Ross, Lu Wang, Laila Selim, Hanan I Elbastawisy, Amal Alhashem, Shereen G. Ghosh, Valentina Stanley, Joseph G. Gleeson, Maha S. Zaki

المصدر: J Med Genet
Journal of medical genetics, vol 57, iss 4

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Protein Folding, Endoplasmic Reticulum, Medical and Health Sciences, Exon, Consanguinity, 0302 clinical medicine, Thioredoxins, 2.1 Biological and endogenous factors, Aetiology, Protein disulfide-isomerase, Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, Genetics, Homozygote, Exons, Biological Sciences, protein disulfide isomerase, Child, Preschool, Neurological, Female, ER stress, Intellectual and Developmental Disabilities (IDD), Protein Disulfide-Isomerases, Biology, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Allele, Preschool, TMX2, Human Genome, Neurosciences, Membrane Proteins, thioredoxin, Protein superfamily, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, Unfolded protein response, Congenital Structural Anomalies, microlissencephaly, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc763239e5761421bb8d500f1fa2fd96Test
https://europepmc.org/articles/PMC7405652Test/

المؤلفون: Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam

المساهمون: İç Hastalıkları, Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip L. S. M., Esko, Jeffrey D., Buschman, Matthew D., Field, Seth J., Napolitano, Gennaro, Abdel-Salam, Ghada M., Ozgul, R Koksal, Saglroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G., Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., De Lonlay, Pascale, Gleeson, Joseph G.

المصدر: Nature genetics, vol 47, iss 5
Nature genetics

مصطلحات موضوعية: Male, Autophagosome, medicine.disease_cause, Medical and Health Sciences, Lysosomal Storage Disease, Gene Frequency, Cerebellum, Phagosomes, Child, Sorting Nexins, Phagosome, Zebrafish, 2. Zero hunger, Genetics, Mutation, Cerebellar Disease, Syndrome, Biological Sciences, Lysosome, Cell biology, medicine.anatomical_structure, Child, Preschool, Female, Cerebellar atrophy, medicine.symptom, Human, Ataxia, Endosome, Biology, Article, Cerebellar Diseases, Clinical Research, Autophagy, medicine, Animals, Humans, Spinocerebellar Ataxias, Preschool, Spinocerebellar Ataxia, Animal, Sorting Nexin, Infant, Brain Disorders, Lysosomal Storage Diseases, Sorting nexin, Atrophy, Lod Score, Lysosomes, Developmental Biology

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7fb536aeb87a30e2cdd2ae132af0efTest
https://doi.org/10.1038/ng.3256Test