↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Tyck till om SwePub Sök här!

Träfflista för sökning "WFRF:(Nordenskjold A) "

Sökning: WFRF:(Nordenskjold A)

Resultat 11-20 av 282

Sortera/gruppera träfflistan

Sortering: Träffar per sida:

Numrering	Referens	Omslagsbild	Hitta
11.	Dessens, A, et al. (författare) Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development 2017 Ingår i: BMJ paediatrics open. - : BMJ. - 2399-9772. ; 1:1, s. e000132- Tidskriftsartikel (refereegranskat)
12.	Engberg, H, et al. (författare) Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function 2022 Ingår i: The journal of sexual medicine. - 1743-6109. ; 19:2, s. 249-256 Tidskriftsartikel (refereegranskat)
13.	Sanders, C, et al. (författare) Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop 2018 Ingår i: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 12:5, s. 225-231 Tidskriftsartikel (refereegranskat)abstract The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet. A coordinator, in collaboration with a support group representative, led the workshop design and delivery. Our successful, facilitated workshop involved 33 attendees from 8 EU countries. The workshop provided individuals with DSD, parents, advisory groups, and professionals with an opportunity for shared learning. Outputs focused on 7 key areas, including diagnosis, childhood, and transition to adult care as well as fostering discussion around registries, future research topics, consent processes, and information needs across the life course. The importance of trustworthy and knowledgeable providers, time to understand such rare conditions, and the place support groups have in a life course approach were valuable learning points for all attendees. In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions.
14.	Stessman, HAF, et al. (författare) Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders 2016 Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 98:3, s. 541-552 Tidskriftsartikel (refereegranskat)
15.	Wang, TY, et al. (författare) Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 2020 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 5398- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
16.	Wang, T, et al. (författare) Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 2020 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932- Tidskriftsartikel (refereegranskat)abstract Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
17.	Engberg, H, et al. (författare) Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis 2017 Ingår i: Journal of psychosomatic research. - : Elsevier BV. - 1879-1360 .- 0022-3999. ; 101, s. 122-127 Tidskriftsartikel (refereegranskat)
18.	Falhammar, H, et al. (författare) Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study 2022 Ingår i: The Journal of clinical endocrinology and metabolism. - 1945-7197. ; 107:2, s. e475-e486 Tidskriftsartikel (refereegranskat)
19.	Gidlof, S, et al. (författare) Reproductive outcome in women with congenital adrenal hyperplasia - a population-based cohort study 2016 Ingår i: GYNECOLOGICAL ENDOCRINOLOGY. - 0951-3590. ; 32, s. 46-47 Konferensbidrag (övrigt vetenskapligt/konstnärligt)
20.	Gomez, MBD, et al. (författare) Risk of hematological malignancies from CT radiation exposure in children, adolescents and young adults 2023 Ingår i: Nature medicine. - 1546-170X. ; 29:12, s. 3111-3119 Tidskriftsartikel (refereegranskat)

Skapa referenser, mejla, bekava och länka

Länka till träfflistan

Resultat 11-20 av 282

Avgränsa träffmängd

Typ av publikation: tidskriftsartikel (224); konferensbidrag (57); forskningsöversikt (1)

Typ av innehåll: refereegranskat (198); övrigt vetenskapligt/konstnärligt (84)

Författare/redaktör: Nordenskjold, A (146); Nordenskjold, M (109); Nordgren, A (39); Frisen, L. (31); Nordenstrom, A (22); Nordenskjold, B (20); visa fler...; Nilsson, D (20); Lindstrand, A (19); Anderlid, BM (18); Fossum, M. (17); Kvarnung, M (17); Lieden, A (15); Henter, JI (15); Bradley, M (14); Grigelioniene, G (13); Fornander, T (13); Wester, T. (12); Blennow, E (12); Stal, O (12); Gustavsson, P (11); Schoumans, J (10); Lundin, J (10); Ortqvist, L (10); Holmdahl, G (10); Taylan, F (10); Soderhall, S (10); Bergh, J (9); Kockum, I. (9); Hatschek, T (9); Wallgren, A (9); Wahlgren, CF (9); Lagerstedt-Robinson, ... (9); Tesi, B (9); Romano, C (9); Falhammar, H (8); Almqvist, C (8); Rutqvist, LE (8); Markljung, E (8); Anvret, M (8); Fadeel, B (8); Hirschberg, AL (8); Anderlid, B (8); Lagerstedt, K (8); Svensson, PJ (8); Lindblom, A (7); Soderhall, C (7); Skoog, L (7); Engberg, H (7); Tham, E. (7); Winge, MCG (7); visa färre...

Lärosäte: Karolinska Institutet (272); Uppsala universitet (17); Lunds universitet (11); Göteborgs universitet (6); Umeå universitet (3); Kungliga Tekniska Högskolan (3); visa fler...; Linköpings universitet (2); Stockholms universitet (1); Örebro universitet (1); Linnéuniversitetet (1); visa färre...

Språk: Engelska (282)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (32); Naturvetenskap (1); Teknik (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - Nationella bibliotekssystem
LIBRIS.kb.se

pil uppåt

Stäng

Kopiera och spara länken för att återkomma till aktuell vy