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European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.Molecular Genetics & Genomic Medicine|January 3, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and PakistanDulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, et al.Clinical Genetics|April 13, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing lossBirgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, et al.Journal of Medical Genetics|July 3, 2007
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arraysJuliane Hoyer, Alexander Dreweke, Christian Becker, et al.Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.BMC Genomics|December 31, 2013
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in NematodaPhilipp H Schiffer, Michael Kroiher, Christopher Kraus, et al.The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyLouise A Metherell, Danielle Naville, George Halaby, et al.Journal of Translational Medicine|June 21, 2019
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profilingThomas M Kinfe, Maria Asif, Krishnan V Chakravarthy, et al.The Journal of Clinical Investigation|June 3, 2011
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsClaudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, et al.JAMA Ophthalmology|May 24, 2019
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular DegenerationFelix Grassmann, Sebastian Harsch, Caroline Brandl, et al.Pageof 52