Results 211 to 220 of about 133,000 (265)

The rate and spectrum of germline mutations in chicken from a commercial pedigree line. [PDF]

Genet Sel Evol
López-Cortegano E, Sosa-Madrid BS, Kranis A.   +2 more
europepmc   +1 more source

Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care. [PDF]

Pediatr Nephrol
Hejenkowska ED, Kruszka P, Swiatecka-Urban A.   +2 more
europepmc   +1 more source

Identification of Novel Co-Occurring <i>ZNF711</i> and <i>SRCAP</i> Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing. [PDF]

Appl Clin Genet
Liu T, Huang M, Dai M, Liang Y, Zhang C, Tan J, Qiao F, Wang Y.   +7 more
europepmc   +1 more source

A recurrent <i>CCDC82</i> frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family. [PDF]

Biochem Biophys Rep
Akhter T, Khan S, Mumeen AA, Naeem MA, Riazuddin S, Riazuddin S.   +5 more
europepmc   +1 more source

A Translational Roadmap for Neurological Nonsense Mutation Disorders. [PDF]

Int J Mol Sci
Li J, Zhu Z, Xu S.
europepmc   +1 more source

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes. [PDF]

Genes (Basel)
Aloi C, Salina A, Cappato S, Minuto N, D'Annunzio G, Gotta F, Maggi D, Mandich P, Musso L, Bocciardi R.   +9 more
europepmc   +1 more source

Nonsense-Mediated Decay mRNA Quality Control System Is Essential for Root Development and Efficient Root Nodule Symbiosis in Medicago truncatula. [PDF]

Plant Cell Environ
Biró JB, Péter C, Domonkos Á, Hegedűs Z, Lakatos L, Rana D, Gyula P, Silhavy D, Kaló P.   +8 more
europepmc   +1 more source

RiboScreen^TM Technology Delivers Small-Molecule Ribodrugs to Convert Ribosomal Proteins into Molecular Valves for Tailored Protein Production Levels in Rare and Prevalent Disease ^†. [PDF]

Biomedicines
Edobor G, Huber R, Reiter C, Gercke H, Kaefer N, Kronsteiner E, Wimmer B, Wimmer M, Karl T, Rinnerthaler M, Krauß J, Krobath H, Mohr T, Gerner C, von Hagen J, Müller N, Hintner H, Liemberger B, Koller U, Bauer JW, Temaj G, Breitenbach-Koller H.   +21 more
europepmc   +1 more source

Identification of Pathogenic Variants in <i>CYP4F22</i>, <i>FLG</i>, <i>ALOX12B</i>, and <i>NIPAL4</i> in a Case Series of Inherited Ichthyosis. [PDF]

Int J Mol Sci
Sattar MA, Zaib AA, Abbasi H, Abideen MZU, Riazuddin S, Ahmed ZM, Naeem M.   +6 more
europepmc   +1 more source

A Case Report of a Novel Myelin Protein Zero (<i>MPZ</i>) Pathogenic Variant in Charcot-Marie-Tooth Disease Combined With Type 2 Diabetes. [PDF]

Case Rep Genet
Xia L, Cai L, Chen X, Zhou K, Huang W, Zhu Y, Yang S.   +6 more
europepmc   +1 more source