The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Autor: Thorpe RK; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Wu P; Department of Otolaryngology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China., Wang Q; College of Otolaryngology Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Beijing, 100853, China., Xu L; Shandong Provincial ENT Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China., Dai P; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China., Yang T; Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China., Schaefer GB; University of Arkansas for Medical Sciences, Little Rock, AR, USA., Peters BR; Dallas Ear Institute, Dallas Hearing Foundation, Dallas, TX, USA., Chan KH; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, CO, USA., Schatz KS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA., Bodurtha J; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hirsch Y; Dor Yeshorim, The Committee of Preventing Jewish Genetic Diseases, Brooklyn, NY, USA., Rahbeeni ZA; Medical Genetics Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia., Yuan H; Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China. yuanhj301@163.com., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. richard-smith@uiowa.edu.; Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA, USA. richard-smith@uiowa.edu.

Publikováno v: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 853-863. Date of Electronic Publication: 2021 Aug 23.

A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis.

Autor: AlFaris HS; Department of Neuroscience, King Faisal Special Hospital and Research Center, Riyadh, Saudi Arabia., Rahbeeni ZA; Department of Medical Genetics, King Faisal Special Hospital and Research Center, Riyadh, Saudi Arabia., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA., Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.; Faculty of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia.

Publikováno v: Clinical chemistry [Clin Chem] 2021 Jun 01; Vol. 67 (6), pp. 912-914.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Autor: Alrakaf L; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Al-Owain MA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Busehail M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alotaibi MA; Clinical Genetic and Metabolic Department, King Saud Medical city, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Aldhalaan HM; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Rahbeeni ZA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Murshedi FA; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Ani NA; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Maawali A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Ibrahim NA; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Abdulwahab FM; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Hashem MO; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Ramadan W; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Meyer BF; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Kaya N; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 715-721. Date of Electronic Publication: 2018 Jan 31.