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Academic Journal

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

Authors : Fitzwilliams, Therese¹ (AUTHOR); Wolff‐Sneedorff, Julie L.² (AUTHOR); Fredholm, Merete² (AUTHOR)

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

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

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Academic Journal

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

Authors : Voermans, Nicol C.¹ (AUTHOR) ; Bhai, Salman^2,3 (AUTHOR); Laforet, Pascal⁴ (AUTHOR)

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

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

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Academic Journal

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Authors : Saiz-Sierra, Leire; Marull Arnall, Anna; Nieto-Moragas, Javier

Subjects: BLOOD testing; ANTIBIOTICS; LEUCOCYTES

Source: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio; Jun2024, Vol. 5 Issue 2, p221-225, 5p

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Periodical

How ApoE Testing Helps Gauge Disease Risk.

Authors : EDWINS, RICHARD

Subjects: MEDITERRANEAN diet; PROTEINS; MEMORY

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

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Academic Journal

Risk factors and etiology of childhood hearing loss: a cohort review of 296 subjects.

Authors : Niu, Kai (AUTHOR); Brandström, Anni (AUTHOR); Skenbäck, Sara (AUTHOR)

Subjects: AUDITORY perception testing; CHROMOSOME abnormalities; HEARING impaired childrenSWEDEN

Source: Acta Oto-Laryngologica. Aug2020, Vol. 140 Issue 8, p668-674. 7p.

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Academic Journal

Screening for late‐onset Pompe disease in Poland.

Authors : Jastrzębska, Aleksandra (AUTHOR); Potulska‐Chromik, Anna (AUTHOR); Łusakowska, Anna (AUTHOR)

Subjects: GLYCOGEN storage disease type II; TANDEM mass spectrometry; MUSCLE weaknessPOLAND

Source: Acta Neurologica Scandinavica. Oct2019, Vol. 140 Issue 4, p239-243. 5p.

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Academic Journal

What do parents expect from a genetic diagnosis of their child with intellectual disability?

Authors : Dikow, Nicola (AUTHOR); Moog, Ute (AUTHOR); Karch, Stephanie (AUTHOR)

Subjects: ANXIETY diagnosis; COMPETENCY assessment (Law); DECISION making

Source: Journal of Applied Research in Intellectual Disabilities. Sep2019, Vol. 32 Issue 5, p1129-1137. 9p.

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Academic Journal

Stroke and frailty index: a two-sample Mendelian randomisation study.

Authors : Wei, Jiangnan; Wang, Jiaxian; Chen, Jiayin

Subjects: GENOME-wide association studies; RESEARCH funding; FRAIL elderly

Source: Aging Clinical & Experimental Research; 5/22/2024, Vol. 36 Issue 1, p1-8, 8p

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Academic Journal

PERSONALIZED HEALTHCARE AS AN INDICATOR OF PATIENT RESILIENCE.

Authors : Brajković, Marija; Babić, Dragan

Subjects: PSYCHOLOGICAL resilience; ENVIRONMENTAL health; HEALTH status indicators

Source: Health Bulletin / Zdravstveni Glasnik; May2024, Vol. 10 Issue 1, p136-152, 17p

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Academic Journal

Assessment of a novel Ehlers-Danlos syndromes disability index.

Authors : Chai, Stephen; Roney, Patricia; Fagan, John

Subjects: GOODNESS-of-fit tests; EHLERS-Danlos syndrome; T-test (Statistics)

Source: Frontiers in Rehabilitation Sciences; 2024, p1-7, 7p

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