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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1421943
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- Article
A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
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- Clinical Genetics, 2024, v. 106, n. 4, p. 437, doi. 10.1111/cge.14575
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- Publication type:
- Article
Sentiment Analysis Based on Performance of Linear Support Vector Machine and Multinomial Naïve Bayes Using Movie Reviews with Baseline Techniques.
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- Journal on Big Data, 2023, v. 5, p. 1, doi. 10.32604/jbd.2023.041319
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- Article
A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.
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- Basic & Clinical Andrology, 2024, v. 34, n. 1, p. 1, doi. 10.1186/s12610-024-00220-7
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- Publication type:
- Article
Mission‐critical open‐source software adoption model validation using Partial Least Square ‐ Structural Equation Modeling.
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- Journal of Software: Evolution & Process, 2023, v. 35, n. 2, p. 1, doi. 10.1002/smr.2514
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- Publication type:
- Article
UNLOCKING THE GENETIC MYSTERIES OF SARS-COV-2: A DEEP DIVE INTO THE SEQUENCE, STRUCTURE AND DYNAMICS OF MPRO MUTATIONS.
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- Biochemical & Cellular Archives, 2024, v. 24, n. 1, p. 35, doi. 10.51470/bca.2024.24.1.35
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- Publication type:
- Article
Metadata for Efficient Management of Digital News Articles in Multilingual News Archives.
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- SAGE Open, 2023, v. 13, n. 4, p. 1, doi. 10.1177/21582440231201368
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- Article
The dilemma of cytomegalovirus and hepatitis B virus interaction.
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- Gastroenterology Report, 2022, v. 10, p. 1, doi. 10.1093/gastro/goac018
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- Publication type:
- Article
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
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- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
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- Publication type:
- Article
Fast Local Laplacian Filter Based on Modified Laplacian through Bilateral Filter for Coronary Angiography Medical Imaging Enhancement.
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- Algorithms, 2023, v. 16, n. 12, p. 531, doi. 10.3390/a16120531
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- Publication type:
- Article
Response of soil microbiome structure and its network profiles to four soil amendments in monocropping strawberry greenhouse.
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- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0245180
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- Publication type:
- Article
Analysis of genetic biomarkers, polymorphisms in ADME-related genes and their impact on pharmacotherapy for prostate cancer.
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- Cancer Cell International, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12935-023-03084-5
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- Publication type:
- Article
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0402-y
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- Publication type:
- Article
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0271-9
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- Publication type:
- Article
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
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- Genes, 2023, v. 14, n. 4, p. 869, doi. 10.3390/genes14040869
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- Publication type:
- Article
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
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- Genes, 2022, v. 13, n. 12, p. 2299, doi. 10.3390/genes13122299
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- Publication type:
- Article
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
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- Genes, 2022, v. 13, n. 9, p. 1630, doi. 10.3390/genes13091630
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- Publication type:
- Article
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.
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- Genes, 2022, v. 13, n. 4, p. 698, doi. 10.3390/genes13040698
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- Publication type:
- Article
In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene.
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- Genes, 2022, v. 13, n. 4, p. 672, doi. 10.3390/genes13040672
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- Publication type:
- Article
Encephalitis treatment - a case report with long-term follow-up of EBV PCR in cerebrospinal fluid.
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- International Journal of General Medicine, 2017, v. 10, p. 371, doi. 10.2147/IJGM.S143335
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- Publication type:
- Article
Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene.
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- Pakistan Journal of Zoology, 2022, v. 54, n. 3, p. 1215, doi. 10.17582/journal.pjz/20200501060515
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- Publication type:
- Article
Survey of Plant Parasitic Nematodes in Different Regions of Khyber-Pakhtun-Khwa.
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- Pakistan Journal of Zoology, 2015, v. 47, n. 4, p. 1201
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- Publication type:
- Article
Prioritization of Disease Prone Exons in INPP5E Gene, Associated With Joubert Syndrome, by in silico Analysis of Non-Synonymous SNPs.
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- Pakistan Journal of Zoology, 2015, v. 47, n. 3, p. 601
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- Publication type:
- Article
Clinical Biomarkers for Diagnosis of Damages in Individuals with Long-Term Exposure to X-Rays.
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- Journal of the College of Physicians & Surgeons Pakistan, 2019, v. 29, n. 7, p. 616, doi. 10.29271/jcpsp.2019.07.616
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- Publication type:
- Article
SECURITY ISSUES IN CLOUD COMPUTING USING EDGE COMPUTING AND BLOCKCHAIN: THREAT, MITIGATION, AND FUTURE TRENDS - A SYSTEMATIC LITERATURE REVIEW.
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- Malaysian Journal of Computer Science, 2023, v. 36, n. 4, p. 1
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- Publication type:
- Article
Understanding the Research Challenges in Low-Resource Language and Linking Bilingual News Articles in Multilingual News Archive.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 15, p. 8566, doi. 10.3390/app13158566
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- Publication type:
- Article
The Role of Transliterated Words in Linking Bilingual News Articles in an Archive.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 7, p. 4435, doi. 10.3390/app13074435
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- Publication type:
- Article
Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies.
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- Applied Sciences (2076-3417), 2022, v. 12, n. 17, p. 8820, doi. 10.3390/app12178820
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- Publication type:
- Article
Absence of Left Circumflex Artery: A Rare Congenital Disorder of Coronary Arteries.
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- 2017
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- Publication type:
- Case Study
A Systematic Literature Review on Using Machine Learning Algorithms for Software Requirements Identification on Stack Overflow.
- Published in:
- Security & Communication Networks, 2020, p. 1, doi. 10.1155/2020/8830683
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- Publication type:
- Article
Pilomatricoma with Osseous Metaplasia in the Shoulder Joint: A Common Lesion with Rare Differentiation.
- Published in:
- Journal of Clinical & Diagnostic Research, 2023, v. 17, n. 10, p. 1, doi. 10.7860/JCDR/2023/60967.18631
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- Publication type:
- Article
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 8, p. 839, doi. 10.1002/ajmg.b.32602
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- Article
Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 491, doi. 10.1111/cge.14381
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- Publication type:
- Article
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307
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- Article
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
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- Annals of Human Genetics, 2016, v. 80, n. 6, p. 342, doi. 10.1111/ahg.12176
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- Publication type:
- Article
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
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- Journal of the Pakistan Medical Association, 2021, v. 71, n. 10, p. 2391, doi. 10.47391/JPMA.03-476
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- Publication type:
- Article
Expression analysis of tumour necrosis factor alpha (TNF-α) and alkaline phosphatase in occupational workers exposed to low dose of X-radiation: A case-control study.
- Published in:
- Journal of the Pakistan Medical Association, 2020, v. 70, n. 11, p. 1887, doi. 10.5455/JPMA.10644
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- Publication type:
- Article
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.
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- Journal of the Pakistan Medical Association, 2020, v. 70, n. 1, p. 143, doi. 10.5455/JPMA.9200
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- Publication type:
- Article
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
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- Journal of the Pakistan Medical Association, 2019, v. 69, n. 12, p. 1812, doi. 10.5455/JPMA.300681
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- Publication type:
- Article
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
- Published in:
- Journal of the Pakistan Medical Association, 2017, v. 67, n. 5, p. 790
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- Publication type:
- Article
Tuberculosis knowledge and health seeking behaviour: A tale of two districts of Sindh, Pakistan.
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- Journal of the Pakistan Medical Association, 2016, v. 66, n. 9, p. 1120
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- Publication type:
- Article
A Systematic Approach Towards Web Preservation.
- Published in:
- Information Technology & Libraries, 2019, v. 38, n. 1, p. 71, doi. 10.6017/ital.v38i1.10181
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- Publication type:
- Article
ETISTP: An Enhanced Model for Brain Tumor Identification and Survival Time Prediction.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 8, p. 1456, doi. 10.3390/diagnostics13081456
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- Publication type:
- Article
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1168307
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- Publication type:
- Article
Bortezomib-mediated downregulation of S-phase kinase protein-2 (SKP2) causes apoptotic cell death in chronic myelogenous leukemia cells.
- Published in:
- 2016
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- Publication type:
- journal article
A hybrid approach for automatic segmentation and classification to detect tuberculosis.
- Published in:
- Digital Health, 2024, p. 1, doi. 10.1177/20552076241271869
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- Publication type:
- Article
Safety of Insulin Degludec/Insulin Aspart in Patients with Diabetes Mellitus over a Period of 1 Year during Routine Clinical Care in India: SMART (Study of Management of Diabetes with Ryzodeg™ Treatment).
- Published in:
- Medical Sciences, 2022, v. 10, n. 1, p. 1, doi. 10.3390/medsci10010001
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- Publication type:
- Article
A New Endemic of Concomitant Nonalcoholic Fatty Liver Disease and Chronic Hepatitis B.
- Published in:
- Microorganisms, 2020, v. 8, n. 10, p. 1526, doi. 10.3390/microorganisms8101526
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- Publication type:
- Article
TREATMENT FOR MALARIA PATIENTS IN PAKISTAN AND THE PREDOMINANCE OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY.
- Published in:
- Pakistan Journal of Biotechnology, 2024, v. 21, n. 1, p. 190, doi. 10.34016/pjbt.2024.21.01.866
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- Publication type:
- Article
Is GeneXpert MTB/RIF assay reliable for the Diagnosis of Pleural Tuberculosis?
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- Journal of Rawalpindi Medical College, 2022, v. 26, n. 2, p. 214, doi. 10.37939/jrmc.v26i2.1770
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- Publication type:
- Article