Identification of a Novel COL11A2 Mutation (c.3031C>A) Associated with Hearing Loss and Intellectual Disability, From Bannu, Khyber Pakhtunkhwa Pakistan.
Fuente:
Zenodo
Saved in:
| Main Author: | Inayat, Fawad |
|---|---|
| Format: | Recurso digital |
| Published: |
Zenodo
2026
|
| Online Access: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
Epidemiology of cutaneous leishmaniasis in children of Khyber Pakhtunkhwa, Pakistan
by: Chao Lu, et al.
Published: (2024)
by: Chao Lu, et al.
Published: (2024)
Tubaria asiatica (Tubariaceae), a new species from Khyber Pakhtunkhwa, Pakistan
by: Fazli Maula, et al.
Published: (2024)
by: Fazli Maula, et al.
Published: (2024)
Factors influencing the adoption of sustainable rice farming practices in Khyber Pakhtunkhwa, Pakistan
by: Ullah, Zakir, et al.
Published: (2026)
by: Ullah, Zakir, et al.
Published: (2026)
Social Barriers And Women's Political Empowerment In District Bajaur, Khyber Pakhtunkhwa, Pakistan
by: Hamad Khan, et al.
Published: (2025)
by: Hamad Khan, et al.
Published: (2025)
Assessing the Impact of Watercourse Encroachments on Farmers' Irrigation Satisfaction in Central Khyber Pakhtunkhwa, Pakistan
by: Abdul Zahir, et al.
Published: (2025)
by: Abdul Zahir, et al.
Published: (2025)
Laccaria swatica sp. nov. ( Agaricales , Hydnangiaceae ) from Swat District, Khyber Pakhtunkhwa, Pakistan
by: Hira Ijaz, et al.
Published: (2026)
by: Hira Ijaz, et al.
Published: (2026)
Integrative Taxonomic Study Reveals Tricholomopsis habibii sp. nov. from Swat District, Khyber Pakhtunkhwa, Pakistan
by: Zia Ullah, et al.
Published: (2026)
by: Zia Ullah, et al.
Published: (2026)
Retracted: First Record of Ichthyofauna from Gomal Zam Dam, District South Waziristan, Khyber Pakhtunkhwa, Pakistan
by: BioMed Research International
Published: (2024)
by: BioMed Research International
Published: (2024)
A preliminary study of Ichthyofauna of Garhi Usmani Khel stream and Meherdy stream at Dargai District Malakand, Khyber Pakhtunkhwa Pakistan
by: Manzoor, Ahmad
Published: (2021)
by: Manzoor, Ahmad
Published: (2021)
Cortinarius squamibrunneus sp. nov. ( Basidiomycota ; Agaricales ) in C . Section Safranopedes of Subgenus Telamonia from Swat District, Khyber Pakhtunkhwa, Pakistan
by: Hira Ijaz, et al.
Published: (2026)
by: Hira Ijaz, et al.
Published: (2026)
The Effect of Stressand Work Overload on Employee's Performance: A CaseStudy of Public Sector Universities of Khyber Pakhtunkhwa
by: Abasyn University
Published: (2020)
by: Abasyn University
Published: (2020)
First Population Assessment Report, Suitable Habitat and Ecological Corridors of the Endangered Kashmir Gray Langur Morphotype ( Semnopithecus ajax , Pocock 1928) in Khyber Pakhtunkhwa, Pakistan
by: Abid Ali, et al.
Published: (2026)
by: Abid Ali, et al.
Published: (2026)
Human epidermal growth receptor polymorphisms (HER1–rs11543848 and HER2–rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan
by: Wafa Sombal, et al.
Published: (2024)
by: Wafa Sombal, et al.
Published: (2024)
Congestion or No Congestion: Packet Loss Identification and Prediction Using Machine Learning
by: Ali, Inayat, et al.
Published: (2024)
by: Ali, Inayat, et al.
Published: (2024)
Prevalence and Determinants of Birth Asphaxia in Khyber Teaching Hospital Peshawar, Pakistan
by: Hamid, Bangash, et al.
Published: (2024)
by: Hamid, Bangash, et al.
Published: (2024)
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
by: Yanli Wang, et al.
Published: (2024)
by: Yanli Wang, et al.
Published: (2024)
Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss
by: Lingling Zeng, et al.
Published: (2026)
by: Lingling Zeng, et al.
Published: (2026)
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
by: Yueying Wang, et al.
Published: (2025)
by: Yueying Wang, et al.
Published: (2025)
Natural History of Sensorineural Hearing Loss in Children With STRC Mutations
by: Kenny H. Chan, et al.
Published: (2026)
by: Kenny H. Chan, et al.
Published: (2026)
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing
by: Heng Jiang, et al.
Published: (2025)
by: Heng Jiang, et al.
Published: (2025)
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies
by: Juan Pablo Trujillo‐Quintero, et al.
Published: (2025)
by: Juan Pablo Trujillo‐Quintero, et al.
Published: (2025)
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant
by: Naomi Laflamme, et al.
Published: (2024)
by: Naomi Laflamme, et al.
Published: (2024)
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss
by: Stefan Rentas, et al.
Published: (2025)
by: Stefan Rentas, et al.
Published: (2025)
A Novel COL12A1 Mutation Causes Oral Tissue Abnormalities by Regulating Gingival Fibroblast Function
by: Shi Yu, et al.
Published: (2025)
by: Shi Yu, et al.
Published: (2025)
Correction to “ BRCA1 Exon 11 Mutations in Breast Cancer: A Study From Pakistan”
Published: (2026)
Published: (2026)
Association Between COPD and Hearing Loss
by: Hyo Geun Choi, et al.
Published: (2024)
by: Hyo Geun Choi, et al.
Published: (2024)
Early‐Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation
by: Jiuqi Yan, et al.
Published: (2024)
by: Jiuqi Yan, et al.
Published: (2024)
Ocean Primary Productivity at OPPWG_3031
by: Balch, William M
Published: (2003)
by: Balch, William M
Published: (2003)
Khyber Medical University Journal
Published: (2018)
Published: (2018)
Figure 3 from: Sultan A, Khan A, Khan R, Mehmood A, Hussain M, Nobis M (2025) Neotrinia kurramica (Poaceae, Stipeae), a new species from Parachinar (Khyber Pakhtunkhwa, Pakistan). PhytoKeys 253: 287-294. https://doi.org/10.3897/phytokeys.253.145562
by: Sultan, Amir, et al.
Published: (2025)
by: Sultan, Amir, et al.
Published: (2025)
Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability
by: Jing Y. Hsu, et al.
Published: (2025)
by: Jing Y. Hsu, et al.
Published: (2025)
Bilateral Sudden on Chronic Hearing Loss as an Auditory Manifestation of Mitochondrial DNA Mutations
by: Chin‐Nung Liu, et al.
Published: (2025)
by: Chin‐Nung Liu, et al.
Published: (2025)
Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene
by: Jaime Gallo‐Terán, et al.
Published: (2024)
by: Jaime Gallo‐Terán, et al.
Published: (2024)
Association of TORCH Pathogens With Spontaneous Pregnancy Loss: A Prospective Study From Pakistan
by: Akmal Zubair, et al.
Published: (2025)
by: Akmal Zubair, et al.
Published: (2025)
Biallelic Mutations in the Otogelin‐Like Gene (OTOGL) Associated With Congenital Non‐Syndromic Sensorineural Hearing Loss in a Chinese Family
by: Xiang Dai, et al.
Published: (2025)
by: Xiang Dai, et al.
Published: (2025)
Blast Exposure Associations With Hearing Loss and Self‐Reported Hearing Difficulty
by: Aaron McIntire, et al.
Published: (2024)
by: Aaron McIntire, et al.
Published: (2024)
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease
by: Aygiz Feiskhanov, et al.
Published: (2024)
by: Aygiz Feiskhanov, et al.
Published: (2024)
A Novel Mathematical Model for Hearing Disability: Dynamics, Equilibrium Analysis, and Stability
by: Ibrahim Al-Dayel, et al.
Published: (2025)
by: Ibrahim Al-Dayel, et al.
Published: (2025)
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability
by: Po‐Nien Lu, et al.
Published: (2025)
by: Po‐Nien Lu, et al.
Published: (2025)
Retracted: Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families
by: BioMed Research International
Published: (2024)
by: BioMed Research International
Published: (2024)
Similar Items
-
Epidemiology of cutaneous leishmaniasis in children of Khyber Pakhtunkhwa, Pakistan
by: Chao Lu, et al.
Published: (2024) -
Tubaria asiatica (Tubariaceae), a new species from Khyber Pakhtunkhwa, Pakistan
by: Fazli Maula, et al.
Published: (2024) -
Factors influencing the adoption of sustainable rice farming practices in Khyber Pakhtunkhwa, Pakistan
by: Ullah, Zakir, et al.
Published: (2026) -
Social Barriers And Women's Political Empowerment In District Bajaur, Khyber Pakhtunkhwa, Pakistan
by: Hamad Khan, et al.
Published: (2025) -
Assessing the Impact of Watercourse Encroachments on Farmers' Irrigation Satisfaction in Central Khyber Pakhtunkhwa, Pakistan
by: Abdul Zahir, et al.
Published: (2025)