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American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.Human Genetics|December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2020
The morbid genome of ciliopathies: an updateHanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2018
Autozygome and high throughput confirmation of disease genes candidacySateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al.European Journal of Human Genetics : EJHG|April 3, 2023
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerationsAshraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsyPritha Bisarad, Yung-Chun Wang, Peter T Skidmore, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2018
Expanding the phenome and variome of skeletal dysplasiaSateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.Cell Reports|January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.Pageof 13