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「"Girisha KM "[Author]」の検索結果

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Novel Splice Site and Nonsense Variants in INVS Cause Infantile Nephronophthisis.

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Whole Exome Sequencing Identifies a Novel Pathogenic Variation [p.(Gly194Valfs*7)] in SLC45A2 in the Homozygous State in Multiple Members of a Family in Southern India Affected with Oculocutaneous Albinism.

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Meckel syndrome: Clinical and mutation profile in six fetuses.

The third family with Eiken syndrome.

A Novel Bi-allelic Loss-of-Function Variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1 related myopathy.

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Confirmation of a rare genetic leukoencephalopathy due to a novel Bi-allelic variant in RPIA.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Cornelia de Lange syndrome in diverse populations.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

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