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Academic Journal

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

Subjects: *RECESSIVE genes; *GENETIC variation; *ASPARTATE aminotransferase

  • Source: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p318-320. 3p.

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Academic Journal

A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

Subjects: *GENETIC variation; *RECESSIVE genes; *HEREDITY

  • Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1455-1456. 2p.

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Academic Journal

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Subjects: *NUCLEOTIDE sequencing; *RECESSIVE genes; *GENETIC transcription

  • Source: Clinical Genetics. Oct2024, Vol. 106 Issue 4, p403-412. 10p.

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Academic Journal

Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene.

Subjects: *RECESSIVE genes; *GENETIC variation; *EYELASHES

  • Source: Pediatric Dermatology. Sep2023, Vol. 40 Issue 5, p960-961. 2p.

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Academic Journal

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.

Subjects: *EPIDERMOLYSIS bullosa; *RECESSIVE genes; *PHENOTYPES

  • Source: Pediatric Dermatology. Jul2023, Vol. 40 Issue 4, p740-742. 3p.

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Academic Journal

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Subjects: *RECESSIVE genes; *GENETIC variation; *WHOLE genome sequencing

  • Source: Gene. Nov2024, Vol. 927, pN.PAG-N.PAG. 1p.

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Academic Journal

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Subjects: *GENETIC testing; *RECESSIVE genes; *GENETIC variation

  • Source: Human Genetics. Nov2024, Vol. 143 Issue 11, p1379-1399. 21p.

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Academic Journal

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.

Subjects: *RECESSIVE genes; *CONGENITAL heart disease; *GENETIC variation

  • Source: Human Genetics. Nov2024, Vol. 143 Issue 11, p1323-1339. 17p.

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Academic Journal

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study.

Subjects: *RECESSIVE genes; *CROSS-sectional method; *GENETIC variationCOLOMBIA

  • Source: Lipids in Health & Disease. 3/28/2023, Vol. 22 Issue 1, p1-9. 9p.

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Academic Journal

Reinvestigation of unidentified causative variants in FXI‐deficient patients: Focus on gene segment deletions.

Subjects: *NUCLEOTIDE sequencing; *RECESSIVE genes; *GENETIC variation

  • Source: Haemophilia. Jan2023, Vol. 29 Issue 1, p248-255. 8p. 1 Chart, 2 Graphs.

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  • 1-10 of  940 results for ""RECESSIVE genes""