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Genes|February 25, 2022
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric NeurologyMagda K Kadlubowska, Isabelle SchrauwenThe Laryngoscope|June 1, 2010
The etiology of otosclerosis: a combination of genes and environmentIsabelle Schrauwen, Guy Van CampHuman Genetics|July 22, 2021
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and futureAnushree Acharya, Isabelle Schrauwen, Suzanne M LealAmerican Journal of Medical Genetics. Part A|August 3, 2017
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delaysBeate Peter, Hope Lancaster, Caitlin Vose, et al.Cerebellum (London, England)|August 20, 2022
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic AtaxiaLeticia Maria Tedesco Silva, Sonali Sharma, Isabelle Schrauwen, et al.Journal of Clinical Medicine|December 11, 2022
Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association StudyLisse J M Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, et al.Annals of Human Genetics|August 30, 2022
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IVShabir Hussain, Shoaib Nawaz, Hammal Khan, et al.Bone|March 5, 2026
HOXD12 a candidate gene for a novel form of synpolydactylyHammal Khan, Muhammad Bilal, Thashi Bharadwaj, et al.BMC Ophthalmology|February 12, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatusTianwei Qian, Qiaoyun Gong, Hangqi Shen, et al.Behavior Genetics|April 6, 2019
Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex EffectsBeate Peter, Valentin Dinu, Li Liu, et al.Pageof 13