Results 231 to 240 of about 473,993 (259)

Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family. [PDF]

Front Genet
Jiang Y, Lian A, Guo J.
europepmc   +1 more source

Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report. [PDF]

Front Med (Lausanne)
Puente C, Aldave Becerra JC.
europepmc   +1 more source

Imerslund-Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in the <i>AMN</i> Gene: A Case Report. [PDF]

Clin Case Rep
Chen C, Min Y, Ye X, Ma Y, Ge H, Chou J, Yang X, Cui Y, Zhang X.   +8 more
europepmc   +1 more source

Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report. [PDF]

Mol Genet Metab Rep
Doubinsky A, Marangoni M, Ghisdal L, Ghaleb R, Van Eycken M, Van Meerhaeghe T.   +5 more
europepmc   +1 more source

Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis. [PDF]

Front Oncol
Mutrib N, Alqarni S, Peer-Zada AA, Samman M, Fatima S, Arjumand S, Aldahshan H, Alharbi KK, AlRashed MM.   +8 more
europepmc   +1 more source

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations [PDF]

Journal of Clinical Immunology, 2021
Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date.
Austen Worth, Alexandra Y Kreins, Bénédicte Neven   +2 more
exaly   +4 more sources