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Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

• Authors : Conti, G.M.; Vaclavik, V.; Rivolta, C.

Subjects: Humans; Retrospective Studies; Male

• Source: Ophthalmic research, vol. 67, no. 1, pp. 172-182

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Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies:a Study in a Tertiary Epilepsy Center

• Authors : Bayat, Allan; Fenger, Christina D.; Techlo, Tanya R.

Subjects: Clinical outcome; Precision therapy; SNP array

• Source: Bayat , A , Fenger , C D , Techlo , T R , Højte , A F , Nørgaard , I , Hansen , T F , Rubboli , G , Møller , R S & group , D C C R S 2022 , ' Impact of Genetic Testing on Therapeutic

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Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

• Authors : Collins, Christopher J.; Yi, Fan; Dayuha, Remwilyn ...

Subjects: Adolescent; Adult; Aged

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

• Authors : Royer-Bertrand, B.; Cisarova, K.; Niel-Butschi, F.

Subjects: Adolescent; Adult; Aged

• Source: Genes, vol. 12, no. 9, pp. 1427

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Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

• Authors : Sheikh, Nabeel; Papadakis, Michael; Wilson, Mathew

Subjects: Adolescent; Adult; African Continental Ancestry Group/genetics

• Source: Sheikh , N , Papadakis , M , Wilson , M , Malhotra , A , Adamuz , C , Homfray , T , Monserrat , L , Behr , E R & Sharma , S 2018 , ' Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave

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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

• Authors : Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P

Subjects: Adolescent; Adult; Child

• Source: Jansen , S , Hoischen , A , Coe , B P , Carvill , G L , Van Esch , H , Bosch , D G M , Andersen , U A , Baker , C , Bauters , M , Bernier , R A , van Bon , B W , Claahsen-van der Grinten , H L , Gecz

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Genome-wide analysis of adolescent psychotic-like experiences shows genetic overlap with psychiatric disorders

• Authors : Pain, Oliver; Dudbridge, Frank; Cardno, Alastair G

Subjects: Adolescent; Anhedonia; Bipolar Disorder/genetics

• Source: Pain , O , Dudbridge , F , Cardno , A G , Freeman , D , Lu , Y , Lundstrom , S , Lichtenstein , P & Ronald , A 2018 , ' Genome-wide analysis of adolescent psychotic-like

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TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

• Authors : Meij, K.R.M. van der; Sistermans, E.A.; Macville, M.V.E. ...

Subjects: 0301 basic medicine; Trisomy 13 Syndrome; IMPACT

• Source: American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESSAmerican Journal of Human Genetics, 105, 6, pp. 1091-1101American journal of human genetics, 105(6), 1091-1101. Cell

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BIGH3 Gene Mutations and Rapid Detection in Korean Patients With Corneal Dystrophy

• Authors : Hae-Sook Kim; Sungjoo Kim Yoon; Beom-Jin Cho

Subjects: Adolescent; Adult; Aged

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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

• Authors : Astrid Gnekow; Claudia Paret; Helmut Hanenberg

Subjects: 0301 basic medicine; History; Medizin

• Source: American Journal of Medical Genetics. A, Vol. 173, No 4 (2017) pp. 1017-1037

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