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Academic Journal

Diagnosis and referrals to physical therapy among caregivers of children with genetic disorders: a qualitative inquiry.

Authors : Gmmash, Afnan; Alsobhi, Mashael; Alzahrani, Nouran Mohammed

Subjects: GENETIC disorder diagnosis; PHYSICAL therapy; QUALITATIVE researchSAUDI Arabia

Source: Disability & Rehabilitation. May2024, Vol. 46 Issue 9, p1815-1824. 10p.

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Academic Journal

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Authors : Winckler, Pablo Brea (AUTHOR); Chwal, Bruna Cristine (AUTHOR); Dos Santos, Marco Antonnio Rocha (AUTHOR)

Subjects: MUSCULAR dystrophy; LIMB-girdle muscular dystrophy; ARTHROGRYPOSISBRAZIL

Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4473-4481. 9p. 2 Diagrams, 1 Chart, 1 Graph.

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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

Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.

Authors : Choi, Woong; Cha, Seongkwang; Kim, Kyoungmi

Subjects: CRISPRS; GENETIC testing; HEPATOLENTICULAR degeneration

Source: Cells (2073-4409); Jul2024, Vol. 13 Issue 14, p1214, 32p

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Academic Journal

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.

Authors : Traisrisilp, Kuntharee; Zheng, Yu; Choy, Kwong Wai

Subjects: GENETICS of thalassemia; THALASSEMIA diagnosis; RESEARCH fundingTHAILAND

Source: Obstetric Medicine (1753-495X); Jun2024, Vol. 17 Issue 2, p101-107, 7p

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Academic Journal

(405) - Accuracy of Clinical Diagnosis in Advanced Heart Failure Patients Undergoing Transplantation and Impact of Genetic Testing.

Authors : Watson, W.¹ (AUTHOR); Mathai, S.¹ (AUTHOR); Papadopoulou, C.¹ (AUTHOR)

Subjects: *HEART failure patients; *GENETIC testing; *HEART failure

Source: Journal of Heart & Lung Transplantation. 2024 Supplement, Vol. 43 Issue 4, pS204-S205. 2p.

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Academic Journal

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing.

Authors : Braegelmann, Johanna¹ (AUTHOR) johannasibylle.braegelmann@uk‐essen.de; Mathew, Annie¹ (AUTHOR); Führer‐Sakel, Dagmar¹ (AUTHOR)

Subjects: *GENETIC testing; *GENETIC mutation; *DIAGNOSIS

Source: Clinical Case Reports. Apr2024, Vol. 12 Issue 4, p1-4. 4p.

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Periodical

GENOMICS FOR THE PEOPLE.

Authors : Strauss, Kevin A.

Subjects: GENETIC disorders; GENETIC disorders in children; GENETIC testing

Source: Scientific American. Dec2015, Vol. 313 Issue 6, p66-73. 8p.

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Academic Journal

Parent Perspectives Towards Genetic and Epigenetic Testing for Autism Spectrum Disorder.

Authors : Wagner, Kayla E.; McCormick, Jennifer B.; Barns, Sarah

Subjects: AUTISM; BIOETHICS; CHILD development deviations

Source: Journal of Autism & Developmental Disorders. Sep2020, Vol. 50 Issue 9, p3114-3125. 12p. 1 Diagram, 1 Chart, 3 Graphs.

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