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「"Girisha KM "[Author]」の検索結果

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Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Spastic Paraplegia Type 56 in a Young Child.

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

Turner syndrome in diverse populations.

gene mutation in three sisters with polyarthritis without systemic features.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

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.

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