Short Reportposted 2024-10-24 05:26:47
Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study
Georgina Wren, Peter O'Callaghan, Abbas Zaidi, Andrew R. Thompson, Trevor Humby, William Davies
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Case Reportposted 2024-09-26 01:19:05
A novel frameshift mutation GLI3c.1826delG in a Greig-cephalopolysyndactyly syndrome patient with nontypical preaxial polydactyly: A case report
Chandra Bhan Singh, Pradeep Jain, Subodh Kumar Singh, Ashok Kumar, Vikash Kumar Pathak, Akhtar Ali
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Research Articleposted 2024-09-24 05:42:25
Novel de novo intronic variant of SYNGAP1 associated with the neurodevelopmental disorders
Baoqiong Liao, Wuming Xie, Mei Shuai, Rutian Liu, Qi Zhang, Min Hong, Shuwen He
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Systematic Reviewposted 2024-09-02 13:01:17
The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era.
Katarina Mueller, Mary Grace Shine, Jae Lee, Soo-Kyung Lee, Karen E. Malone
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Research Articleposted 2024-08-26 11:22:16
“It's both a terrifying and a powerful position to be in”: A qualitative study exploring clinician experiences and perspectives on providing publicly funded fetal exome sequencing.
Samantha Dayman, Lilian Downie, Melissa Graetz, Lisa Hui
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Research Articleposted 2024-08-09 00:40:14
Physician preparedness for genetic counseling in a pediatric cancer center in Egypt
Nouran Gouda, Alaa El Haddad, Eslam Maher, Diane Koeller, Tara Maga, Shelly McQuaid
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Research Articleposted 2024-06-26 14:38:53
Renal Tubular Epithelium in the Development of Renal Cell Carcinoma
Ovais Shafi, Kashaf Zahra, Haider Hussain Shah
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Research Articleposted 2024-06-10 18:07:27
Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome
Cortney Gensemer, Tyler Beck, Lilong Guo, Taylor Petrucci, Jordan Morningstar, Isabelle Kornblau, Kathryn Byerly, and 49 more authors
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Research Articleposted 2024-05-30 09:17:17
Associations Between Vitamin D Receptor Gene Polymorphisms and Carpal Tunnel Syndrome
Bilal Yıldız, Fatma Ebru Algül, Elif Yeşilada
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Research Articleposted 2024-05-14 20:59:04
Alzheimer's Disease Investigated via Gene-Environment Interactions, Biochemical Pathways, Cellular Processes, and Disease Phenotype Variability
Viqas Shafi, Ifrah Siddiqui
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