Search Results - "Azher Z"

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report.

Authors: Azher Z Alsabban M Ali LA et al.

Source: Medicine [Medicine (Baltimore)] 2026 Jun 05; Vol. 105 (23), pp. e49159.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Authors: Ekram SN Elemam O Alandonisi M et al.

Source: Discover oncology [Discov Oncol] 2025 May 20; Vol. 16 (1), pp. 829. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101775142 Publication Model: Electronic Cited Medium: Internet ISSN: 2730-6011 (Electronic) Linking ISSN: 27306011 NLM ISO Abbreviation: Discov Oncol Subsets: PubMed not MEDLINE

Multi-Dimensional Transcriptomics Reveals the Prominent Role of Neuroinflammation in Alzheimer's Disease.

Authors: Wang, Xingyu Rong, Zhouting Xue, Feng

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 11, p5020. 23p.

Enhancing the Photocatalytic Activity of Immobilized TiO 2 Using Laser-Micropatterned Surfaces.

Authors: Giannakis, Theodoros Zervou, Sevasti-Kiriaki Triantis, Theodoros M. et al.

Source: Applied Sciences (2076-3417); Apr2024, Vol. 14 Issue 7, p3033, 17p

Engaging Spanish-Speaking Latinos with Urban Parks in Salt Lake City.

Authors: García, Ivis Santos-Rivera, Carlos Jimenez-Garcia, Minerva et al.

Source: World (2673-4060). Sep2024, Vol. 5 Issue 3, p483-505. 23p.

The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer.

Authors: Hajeri, Amani Al Awadhi, Amna Al Kumar, Nitya et al.

Source: Journal of Clinical Medicine. Jul2025, Vol. 14 Issue 13, p4536. 16p.

The Effects of Annealing Temperatures and Dimethylformamide Doses on Porous TiO 2 Films.

Authors: Huang, Pao-Hsun Wu, Cheng-Han Wu, Cheng-Kuan et al.

Source: Crystals (2073-4352); Jan2023, Vol. 13 Issue 1, p61, 18p

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Authors: Serey-Gaut M Balogoun R Jonard L et al.

Source: Human genetics [Hum Genet] 2025 Apr; Vol. 144 (4), pp. 433-441. Date of Electronic Publication: 2025 Feb 07.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

An anticounterfeiting strategy based on photochromic nonwoven polyester fabric by plasma‐assisting spray coating with ultraviolet‐responsive silica@strontium aluminate nanoparticles.

Authors: Al‐Ahmed, Zehbah A. Alzahrani, Seraj Omar AlJohani, Ahmed K. B. et al.

Source: Applied Organometallic Chemistry. Apr2023, Vol. 37 Issue 4, p1-15. 15p.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Authors: Tropitzsch A Schade-Mann T Gamerdinger P et al.

Source: Ear and hearing [Ear Hear] 2022 May/Jun; Vol. 43 (3), pp. 1049-1066.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Williams And Wilkins Country of Publication: United States NLM ID: 8005585 Publication Model: Print Cited Medium: Internet ISSN: 1538-4667 (Electronic) Linking ISSN: 01960202 NLM ISO Abbreviation: Ear Hear Subsets: MEDLINE

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Authors: Rentas S Rajagopalan R Ayazseven T et al.

Source: Human mutation [Hum Mutat] 2025 Dec 01; Vol. 2025, pp. 6371082. Date of Electronic Publication: 2025 Dec 01 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome.

Authors: Bai SY Zeng DY Ouyang M et al.

Source: Frontiers in cellular neuroscience [Front Cell Neurosci] 2024 Jul 03; Vol. 18, pp. 1393536. Date of Electronic Publication: 2024 Jul 03 (Print Publication: 2024).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.

Authors: Ford CL Riggs WJ Quigley T et al.

Source: Human genetics [Hum Genet] 2023 Oct; Vol. 142 (10), pp. 1429-1449. Date of Electronic Publication: 2023 Sep 07.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Preparation of novel authentication film by screen printing of anthocyanin biomolecular extract: Thermochromism and vapochromism.

Authors: Aldawsari AM Alkhathami ND Al-Bonayan AM et al.

Source: Luminescence : the journal of biological and chemical luminescence [Luminescence] 2023 May; Vol. 38 (5), pp. 613-624. Date of Electronic Publication: 2023 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Wiley & Sons Country of Publication: England NLM ID: 100889025 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-7243 (Electronic) Linking ISSN: 15227235 NLM ISO Abbreviation: Luminescence Subsets: MEDLINE

Genetic etiology of non-syndromic hearing loss in Europe.

Authors: Del Castillo I Morín M Domínguez-Ruiz M et al.

Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 683-696. Date of Electronic Publication: 2022 Jan 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.

Authors: Cruz Marino T Tardif J Leblanc J et al.

Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 607-622. Date of Electronic Publication: 2021 Aug 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.

Authors: Abbasi W French CE Rockowitz S et al.

Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 387-400. Date of Electronic Publication: 2021 Nov 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.

Authors: Genovese AC Butler MG

Source: Genes [Genes (Basel)] 2025 Jan 25; Vol. 16 (2). Date of Electronic Publication: 2025 Jan 25.

Publication Type: Systematic Review; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Identification of novel diagnostic biomarkers associated with liver metastasis in colon adenocarcinoma by machine learning.

Authors: Yang L Tian Y Cao X et al.

Source: Discover oncology [Discov Oncol] 2024 Oct 10; Vol. 15 (1), pp. 542. Date of Electronic Publication: 2024 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101775142 Publication Model: Electronic Cited Medium: Internet ISSN: 2730-6011 (Electronic) Linking ISSN: 27306011 NLM ISO Abbreviation: Discov Oncol Subsets: PubMed not MEDLINE

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Authors: Bahena P Daftarian N Maroofian R et al.

Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 785-803. Date of Electronic Publication: 2021 Jun 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE