Source: Hertz , J M , Svenningsen , P , Dimke , H , Engelund , M B , Nørgaard , H , Hansen , A , Marcussen , N , Thiesson , H C , Bergmann , C & Larsen , M J 2022 , ' Detection of DZIP1L mutations by

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Genetics of diaphragmatic hernia

Authors : Schreiner, Yannick; Schaible, Thomas; Rafat, Neysan

Subjects: Mutation [MeSH]; Vitamin A/metabolism [MeSH]; Hernia

Source: http://lobid.org/resources/99370671030206441#!, 29(12):1729-1733.

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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants:CACNA1F as an exemplar

Authors : Sallah, Shalaw R.; Sergouniotis, Panagiotis I.; Barton, Stephanie

Subjects: Animals; Calcium Channels; L-Type/chemistry

Source: Sallah , S R , Sergouniotis , P I , Barton , S , Ramsden , S , Taylor , R L , Safadi , A , Kabir , M , Ellingford , J M , Lench , N , Lovell , S C & Black , G C M 2020 , ' Using an integrative machine

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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

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Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

Authors : Kherra, Sakina; Blouin, Jean-Louis; Santoni, Federico

Subjects: info:eu-repo/classification/ddc/576.5; info:eu-repo/classification/ddc/618; Diabetes Mellitus/diagnosis/genetics

Source: ISSN: 1424-7860 ; Swiss Medical Weekly, vol. 147 (2017) w14535.

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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

Authors : Soo Min Han; Byungjin Hwang; Tae-gun Park

Subjects: Adult; Aged; Apolipoproteins B/genetics

Source: T201501390.pdf

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Authors : Nadine Hanna; Tiffany Busa; Mélodie Aubart ...

Subjects: Male; Proband; class 4 and 5 variants

Source: Genetics in MedicineGenetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩

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فلترة النتائج

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

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

Genetics of diaphragmatic hernia

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants:CACNA1F as an exemplar

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

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

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