Found: 16
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A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1251, doi. 10.1002/ajmg.a.62610
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- Publication type:
- Article
A Novel Homozygous Nonsense Variant in BICD2 Underlies Hereditary Spastic Paraplegia Complex Type.
- Published in:
- Pakistan Journal of Zoology, 2020, v. 52, n. 2, p. 727, doi. 10.17582/journal.pjz/20190122050127
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- Publication type:
- Article
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 733, doi. 10.1038/ejhg.2009.225
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- Publication type:
- Article
Colchicine prevents oxidative stress-induced endothelial cell senescence via blocking NF-κB and MAPKs: implications in vascular diseases.
- Published in:
- Journal of Inflammation, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12950-023-00366-7
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- Article
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Diagnostic Accuracy of C-Reactive Protein in Acute Appendicitis.
- Published in:
- Pakistan Armed Forces Medical Journal, 2024, v. 74, n. 4, p. 1011, doi. 10.51253/pafmj.v74i4.9109
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- Publication type:
- Article
EFFECT OF SUBCUTANEOUS RECOMBINANT HUMAN ERYTHROPOIETIN ON BLOOD PRESSURE IN PRE-DIALYSIS CHRONIC KIDNEY DISEASE (CKD) PATIENTS.
- Published in:
- Pakistan Armed Forces Medical Journal, 2021, v. 71, n. 1, p. 261, doi. 10.51253/pafmj.v71i1.2489
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- Publication type:
- Article
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 4, p. 642, doi. 10.3390/cells12040642
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- Publication type:
- Article
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09728-7
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- Publication type:
- Article
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-09161-2
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- Publication type:
- Article
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-09161-2
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- Publication type:
- Article
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1378, doi. 10.1002/humu.21079
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- Publication type:
- Article
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 48, doi. 10.3390/genes14010048
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- Publication type:
- Article
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1494, doi. 10.3390/genes12101494
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- Publication type:
- Article
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.
- Published in:
- 2021
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- Publication type:
- Case Study
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling.
- Published in:
- 2019
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- Publication type:
- journal article