المؤلفون: Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: neurodevelopmental disorders (NDDs), myelination, DOP1A, Mon2, proteolipid protein (PLP), myelin-associate glycoprotein (MAG), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1351710/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e5ecb5085d1c4531a71ff058b97a4cf7

المؤلفون: Ilyas Ahmad, Juliane Lokau, Birte Kespohl, Naveed Altaf Malik, Shahid Mahmood Baig, Roland Hartig, Daniel Behme, Roland Schwab, Janine Altmüller, Muhammad Jameel, Sören Mucha, Holger Thiele, Muhammad Tariq, Peter Nürnberg, Jeanette Erdmann, Christoph Garbers

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/37abbe8ef1aa4c21a5485f639564dcf7

المؤلفون: Azizah Ziauddin, Sadia Ahmad, Asad Iqbal, Abdul Majid Khan, Shahid Mahmood Baig

المصدر: Journal of Bioresource Management, Vol 7, Iss 4, Pp 97-102 (2020)

مصطلحات موضوعية: preeclampsia, snp, tumor necrosis factor (tnf), interleukin 1, pcr-rflp, Environmental sciences, GE1-350, Ecology, QH540-549.5

وصف الملف: electronic resource

Relation: https://corescholar.libraries.wright.edu/cgi/viewcontent.cgi?article=1259&context=jbm; https://doaj.org/toc/2309-3854

URL الوصول: https://doaj.org/article/504432cdd55244b89aca49fc82ebecda

المؤلفون: Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baig

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Hearing loss, Whole exome sequencing, Consanguineous pedigrees, Clinical detection, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01087-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/58714ab5a8e04004bc534f6130460116

المؤلفون: Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

مصطلحات موضوعية: ASPM, CDK5RAP2, CENPJ, CEP135, MCPH, STIL, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/86efdf4d011a4c569530b984fe472c83

المؤلفون: Ghulam Hussain, Jing Wang, Azhar Rasul, Haseeb Anwar, Ali Imran, Muhammad Qasim, Shamaila Zafar, Syed Kashif Shahid Kamran, Aroona Razzaq, Nimra Aziz, Waseem Ahmad, Asghar Shabbir, Javed Iqbal, Shahid Mahmood Baig, Tao Sun

المصدر: Lipids in Health and Disease, Vol 18, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Cholesterol, Sphingolipids, Development, Neurological diseases, Nervous system, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12944-019-0965-z; https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/36ab17cb3c7b43ea9b7839066d0e527a

المؤلفون: Doroteya Raykova, Joakim Klar, Aysha Azhar, Tahir Naeem Khan, Naveed Altaf Malik, Muhammad Iqbal, Muhammad Tariq, Shahid Mahmood Baig, Niklas Dahl

المصدر: PLoS ONE, Vol 9, Iss 4, p e93607 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24714551/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/be1adbe3ffec4a89b125b16f67381000

المؤلفون: Zafar Iqbal, Aamer Aleem, Mudassar Iqbal, Mubashar Iqbal Naqvi, Ammara Gill, Abid Sohail Taj, Abdul Qayyum, Najeeb ur-Rehman, Ahmad Mukhtar Khalid, Ijaz Hussain Shah, Muhammad Khalid, Riazul Haq, Mahwish Khan, Shahid Mahmood Baig, Abid Jamil, Muhammad Naeem Abbas, Muhammad Absar, Amer Mahmood, Mahmood Rasool, Tanveer Akhtar

المصدر: PLoS ONE, Vol 8, Iss 2, p e55717 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3568121?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/006171ec52514c238b8255891fec978c

المؤلفون: Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal

المصدر: Genes; Volume 14; Issue 7; Pages: 1404

مصطلحات موضوعية: spinocerebellar, consanguinity, ataxia, spastic paraplegia, neurological disorders

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14071404

الاتاحة: https://doi.org/10.3390/genes14071404

المؤلفون: Niaz Muhammad Khan, Muhammad Shareef Masoud, Shahid Mahmood Baig, Muhammad Qasim, Junlei Chang

المصدر: BioMed Research International, Vol 2022 (2022)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2022/3769948; https://doaj.org/toc/2314-6141; https://doaj.org/article/7c8f7f1c6b974302a78b44d52eded252

الاتاحة: https://doi.org/10.1155/2022/3769948
https://doaj.org/article/7c8f7f1c6b974302a78b44d52eded252

المؤلفون: Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg

المصدر: Genes; Volume 12; Issue 10; Pages: 1494

مصطلحات موضوعية: autosomal recessive primary microcephaly (MCPH), AKNA, whole-exome sequencing (WES), linkage/haplotype analysis, cerebral cortex

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12101494

الاتاحة: https://doi.org/10.3390/genes12101494

المؤلفون: Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Abdul Razzaq Mughal, Syed Zahid Jamal, Peter Nürnberg, Shahid Mahmood Baig, Jeanette Erdmann, Ilyas Ahmad

المصدر: Genes; Volume 12; Issue 8; Pages: 1282

مصطلحات موضوعية: TNNI3K, missense mutation, molecular modeling simulation, cardiac conduction

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081282

الاتاحة: https://doi.org/10.3390/genes12081282

المؤلفون: Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

المصدر: Genes; Volume 12; Issue 5; Pages: 731

مصطلحات موضوعية: MCPH, Seckel syndrome, modifier alleles, primordial dwarfism, impaired splicing, supernumerary centrosomes

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050731

الاتاحة: https://doi.org/10.3390/genes12050731

المؤلفون: Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, neurodevelopmental disorders (NDDs), myelination, DOP1A, Mon2, proteolipid protein (PLP), myelin-associate glycoprotein (MAG)

Relation: https://figshare.com/articles/figure/Image1_Whole_exome_sequencing_identified_a_homozygous_novel_variant_in_DOP1A_gene_in_the_Pakistan_family_with_neurodevelopmental_disabilities_case_report_and_literature_review_TIF/25834759

الاتاحة: https://doi.org/10.3389/fgene.2024.1351710.s001
https://figshare.com/articles/figure/Image1_Whole_exome_sequencing_identified_a_homozygous_novel_variant_in_DOP1A_gene_in_the_Pakistan_family_with_neurodevelopmental_disabilities_case_report_and_literature_review_TIF/25834759

المؤلفون: Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, neurodevelopmental disorders (NDDs), myelination, DOP1A, Mon2, proteolipid protein (PLP), myelin-associate glycoprotein (MAG)

Relation: https://figshare.com/articles/dataset/Table1_Whole_exome_sequencing_identified_a_homozygous_novel_variant_in_DOP1A_gene_in_the_Pakistan_family_with_neurodevelopmental_disabilities_case_report_and_literature_review_DOCX/25834768

الاتاحة: https://doi.org/10.3389/fgene.2024.1351710.s004
https://figshare.com/articles/dataset/Table1_Whole_exome_sequencing_identified_a_homozygous_novel_variant_in_DOP1A_gene_in_the_Pakistan_family_with_neurodevelopmental_disabilities_case_report_and_literature_review_DOCX/25834768

المؤلفون: Ayaz Khan, Shixiong Tian, Muhammad Tariq, Sheraz Khan, Muhammad Safeer, Naimat Ullah, Nazia Akbar, Iram Javed, Mahnoor Asif, Ilyas Ahmad, Shahid Ullah, Humayoon Shafique Satti, Raees Khan, Muhammad Naeem, Mahwish Ali, John Rendu, Julien Fauré, Klaus Dieterich, Xenia Latypova, Shahid Mahmood Baig, Naveed Altaf Malik, Feng Zhang, Tahir Naeem Khan, Chunyu Liu

المصدر: Molecular Genetics and Genomics. 297:1601-1613

مصطلحات موضوعية: Exome Sequencing, Homozygote, Mutation, Genetics, Humans, Metalloendopeptidases, Transposases, General Medicine, Nervous System Diseases, Molecular Biology, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cabcb7b0d627957db87c74f7d66809
https://doi.org/10.1007/s00438-022-01945-8

المؤلفون: Shumaila Zulfiqar, Abubakar Moawia, Syeda Seema Waseem, Zafar Ali, Shafaq Ramzan, Iram Anjum, Shahid Mahmood Baig, Muhammad Tariq

المصدر: International Journal of Neuroscience. :1-6

مصطلحات موضوعية: General Neuroscience, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed21a7919dcdb528e5ad7700f365ba12
https://doi.org/10.1080/00207454.2022.2082967

المؤلفون: Tahira Batool, Saba Irshad, Muhammad Riaz, Shahid Mahmood Baig, Peter Nuernberg, Muhammad Sajid Hussain

المصدر: Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d22a6114c05b0d9b7eab5e91902fcfff
https://doi.org/10.1038/s10038-023-01132-6

المؤلفون: Shoaib Ur Rehman, Shahid Mahmood Baig, Larse Hasen, Ilyas Ahmad, Rahmat Ali, Masroor Hussain

المصدر: Journal of the Pakistan Medical Association, Vol 69, Iss 12 (2019)

مصطلحات موضوعية: Medicine

Relation: https://www.ojs.jpma.org.pk/index.php/public_html/article/view/8527; https://doaj.org/toc/0030-9982; https://doaj.org/article/670e608e8fc64af5b6af97ffdd01aa36

الاتاحة: https://doi.org/10.47391/JPMA.286929
https://doaj.org/article/670e608e8fc64af5b6af97ffdd01aa36

المؤلفون: Maria Asif, Ionut Dragos Mocanu, Uzma Abdullah, Wolfgang Höhne, Janine Altmüller, Ehtisham Ul Haq Makhdoom, Holger Thiele, Shahid Mahmood Baig, Peter Nürnberg, Luitgard Graul‐Neumann, Muhammad Sajid Hussain

المصدر: American Journal of Medical Genetics Part A. 188:1251-1258

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::83bbcee50137063c881cc9f232999a78
https://doi.org/10.1002/ajmg.a.62610