نتائج البحث

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

• Authors : Verberne, Eline A; Westermann, Jonne M; de Vries, Tamar I ...

Subjects: Caribbean Region/epidemiology; Child; DNA Copy Number Variations

تفاصيل العنوان

European guidelines for constitutional cytogenomic analysis

• Authors : Silva, Marisa; de Leeuw, Nicole; Mann, Kathy ...

Subjects: Cytogenetic Analysis/methods; European Union; Genetic Testing/methods

تفاصيل العنوان

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

• Authors : Keavney, Bernard; Tomaszewski, Maciej; Morris, Andrew

Subjects: Adult; Aged; 80 and over

• Source: Keavney , B , Tomaszewski , M , Morris , A & et al 2018 , ' Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ' , Nature

تفاصيل العنوان

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

• Authors : Thierry Kuntzer; Jean-Marc Good; Mayte Castro Jiménez

Subjects: 0301 basic medicine; Pediatrics; medicine.medical_specialty

• Source: Genes, Vol 12, Iss 695, p 695 (2021)Genes, vol. 12, no. 5, pp. 695Genes

تفاصيل العنوان

De novo variants in neurodevelopmental disorders with epilepsy

• Authors : Heyne, H. O.; Singh, T.; Stamberger, H. ...

Subjects: Exome/genetics; Male; 0301 basic medicine

• Source: bioRxiv. Cold Spring Harbor Labs Journals (2017).Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R,

تفاصيل العنوان

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

• Authors : Rolph Pfundt; Bregje W.M. van Bon; Petra de Vries ...

Subjects: Male; 0301 basic medicine; lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]

• Source: European Journal of Human Genetics, 26(1), 54. Nature Publishing GroupEuropean Journal of Human Genetics, 26(1), 54-63. Nature

تفاصيل العنوان

Longitudinal analyses of the DNA methylome in deployed military servicemen identify susceptibility loci for post-traumatic stress disorder

• Authors : Bart P. F. Rutten; Christiaan H. Vinkers; Hagit Cohen ...

Subjects: Male; 0301 basic medicine; Oncology

• Source: Molecular psychiatry, vol 23, iss 5Molecular Psychiatry, 23(5), 1145. Nature Publishing GroupMolecular Psychiatry, 23(5), 1145-1156. Nature Publishing GroupMolecular Psychiatry,

تفاصيل العنوان

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. 1091-1101

تفاصيل العنوان

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

• Authors : Shalaw R. Sallah; Simon C Ramsden; Graeme C.M. Black

Subjects: Genetic testing; Calcium Channels, L-Type; Computer science

• Source: European Journal of Human GeneticsSallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C &

تفاصيل العنوان

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

• Authors : Carla Oliveira; Roland P. Kuiper; Hildegunn Høberg-Vetti ...

Subjects: 0301 basic medicine; Male; Candidate gene

• Source: European Journal of Human Genetics, 25, 11, pp. 1246-1252European Journal of Human Genetics, 25(11), 1246. Nature Publishing

تفاصيل العنوان