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Academic Journal

Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.

Subjects: *BULLDOG; *GENETIC testing; *MISSENSE mutation

  • Source: Animal Genetics. Aug2023, Vol. 54 Issue 4, p566-569. 4p.

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Academic Journal

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.

Subjects: GENETIC mutation; SEQUENCE analysis; GENETIC testingCHINA

  • Source: Acta Oto-Laryngologica. May2022, Vol. 142 Issue 5, p448-453. 6p.

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Academic Journal

Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.

Subjects: *GENETIC testing; *RHABDOMYOLYSIS; *LSD (Drug)

  • Source: Muscle & Nerve. Jul2024, p1. 4p. 2 Illustrations.

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Academic Journal

Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.

Subjects: SYMPTOMS; GENETIC variation; UBIQUITIN ligases

  • Source: Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia. Oct2023, Vol. 88 Issue 10, p885-889. 5p.

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Academic Journal

A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms.

Subjects: GENETIC mutation; DYSTONIA; FOCAL dystonia

  • Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4547-4549. 3p. 1 Diagram.

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Academic Journal

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus.

Subjects: TYPE 1 diabetes; CROSS-sectional method; AUTOANTIBODIESTURKEY

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Jun2024, Vol. 16 Issue 2, p137-145, 9p

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Academic Journal

Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Subjects: SURVIVAL rate; RESEARCH funding; FISHER exact testSOUTH Korea

  • Source: Cancers; Jun2024, Vol. 16 Issue 11, p2006, 28p

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Academic Journal

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.

Subjects: GENETIC testing; Y chromosome; SINGLE mothers

  • Source: Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia. Mar2023, Vol. 80 Issue 3, p201-207. 7p.

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Academic Journal

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

Subjects: *GENETIC testing; *GENETIC mutation; *MOTOR neurons

  • Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Aug2022, Vol. 23 Issue 5/6, p458-461. 4p.

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Periodical

How ApoE Testing Helps Gauge Disease Risk.

Subjects: MEDITERRANEAN diet; PROTEINS; MEMORY

  • Source: Life Extension. May2023, Vol. 29 Issue 5, p56-60. 5p.

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  • 1-10 of  5,530 results for ""GENETIC testing""