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17 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns	Deal, Milena			111	11	p. 2542-2560	article
2	Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	Qiao, Lu			111	11	p. 2362-2381	article
3	Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies	Chen, Yu			111	11	p. 2444-2457	article
4	Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs	Auwerx, Chiara			111	11	p. 2347-2361	article
5	Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression	Dybdahl Krebs, Morten			111	11	p. 2494-2509	article
6	Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia	Barish, Scott			111	11	p. 2566-2581	article
7	Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	Tanigawa, Yosuke			111	11	p. 2478-2493	article
8	Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo	Roberts, Genevieve H.L.			111	11	p. 2561-2565	article
9	Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS	Yin, Xiaoyu			111	11	p. 2427-2443	article
10	MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	Gong, Maolei			111	11	p. 2392-2410	article
11	Modeling recent positive selection using identity-by-descent segments	Temple, Seth D.			111	11	p. 2510-2529	article
12	Phenotypic spectrum of dual diagnoses in developmental disorders	Ridsdale, Alys M.			111	11	p. 2382-2391	article
13	Profiling genetically driven alternative splicing across the Indonesian archipelago	Ibeh, Neke			111	11	p. 2458-2477	article
14	Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants	Richardson, Marcy E.			111	11	p. 2411-2426	article
15	The pleiotropic spectrum of proximal 16p11.2 CNVs	Auwerx, Chiara			111	11	p. 2309-2346	article
16	This month in The Journal	Barnes, Alyson B.			111	11	p. 2307-2308	article
17	Where is the boundary of the human pseudoautosomal region?	Bellott, Daniel W.			111	11	p. 2530-2541	article

17 results found

Koninklijke Bibliotheek - National Library of the Netherlands