Results 241 to 250 of about 204,351 (287)

Co-Occurrence of <i>RAD21</i> and <i>TNFAIP3</i> Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions. [PDF]

Int J Mol Sci
Orozco BE, Orozco CV, Meléndez E, Mangones MF, Valderrama J, Lobato A, Garavito-Galofre P, Vélez JI, Vidal OM.   +8 more
europepmc   +1 more source

First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss. [PDF]

BMC Med Genomics
Ghasemi H, Esmaeilzadeh E, Abghari FZ, Mohseni M, Akbarpoor E, Khorram Khorshid HR, Bazazzadegan N, Najafipour R.   +7 more
europepmc   +1 more source

Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco. [PDF]

Front Immunol
Kattra AB, Ailal F, Benhsaien I, Fahi M, Drissi Bourhanbour A, Elamine A, Aadam Z, Errami A, Bousfiha AA, El Bakkouri J.   +9 more
europepmc   +1 more source

A Rare Nonsense Mutation in the <i>ABCB4</i> Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report. [PDF]

J Clin Med
Cai B, Lv D, Luo X, Zhou L.
europepmc   +1 more source

High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs. [PDF]

Nucleic Acids Res
Beharry A, Ward C, Moore H, Hoffman KS, Chan PP, Lowe TM, O'Donoghue P.   +6 more
europepmc   +1 more source

Deciphering the Causative Role of a Novel <i>APC</i> Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing. [PDF]

Biomedicines
Forte G, Fasano C, Iacoviello M, Grossi V, Lepore Signorile M, De Marco K, Sanese P, Buonadonna AL, Manghisi A, Tutino NM, Disciglio V, Simone C.   +11 more
europepmc   +1 more source

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. [PDF]

Genes (Basel)
Yeter B, Kendir Demirkol Y, Usluer E, Görüşen Kavak İ, Ergin SG, Elçioğlu NH.   +5 more
europepmc   +1 more source

Case Report: genotype-phenotype correlations in <i>FLNA</i> mutations: insights from a case of multisystem dysfunction. [PDF]

Front Genet
Liu J, Pan X, Qiao L, Liao Y, Liu Z.
europepmc   +1 more source

Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family. [PDF]

Children (Basel)
Ruta R, Massaccesi N, Mucciolo M, Sparaci A, Fabbrizi E, Novelli A.   +5 more
europepmc   +1 more source

A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects. [PDF]

Biomedicines
Liu C, Yin X, Yin G, Wang J, Chen Y, Zhang Y, Li J, Luo J.   +7 more
europepmc   +1 more source