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1.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827496
2.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34515416
3.
Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms.
Qual Health Res
; 31(2): 361-372, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33146080
4.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Am J Hum Genet
; 100(5): 737-750, 2017 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28457472
5.
Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018.
Eur J Haematol
; 105(5): 608-615, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32710483
6.
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.
J Genet Couns
; 29(6): 1093-1105, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32162754
7.
Treatment of hemophilia: A qualitative study of mothers' perspectives.
Pediatr Blood Cancer
; 64(1): 121-127, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27472376
8.
"It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.
J Genet Couns
; 26(6): 1324-1332, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28547664
9.
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.
J Genet Couns
; 25(5): 1085-92, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26948256
10.
Man with macrocephaly, learning disability and multiple basal cell carcinomas.
Tidsskr Nor Laegeforen
; 134(11): 1151-4, 2014 Jun 17.
Artículo
en Inglés, Noruego
| MEDLINE | ID: mdl-24939783
11.
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study.
Health Psychol Behav Med
; 11(1): 2263534, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37811316
12.
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia.
Acta Ophthalmol
; 2023 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38131258
13.
Children with a rare congenital genetic disorder: a systematic review of parent experiences.
Orphanet J Rare Dis
; 17(1): 375, 2022 10 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36253830
14.
It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis.
Health Psychol Behav Med
; 10(1): 335-356, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35402085
15.
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.
Orphanet J Rare Dis
; 16(1): 427, 2021 10 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34641933
16.
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.
JIMD Rep
; 62(1): 56-69, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34765399
17.
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Eur J Hum Genet
; 29(6): 920-929, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33288889
18.
G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.
Amyotroph Lateral Scler
; 11(5): 478-80, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20192886
19.
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]. / Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien.
Tidsskr Nor Laegeforen
; 129(22): 2358-61, 2009 Nov 19.
Artículo
en Noruego
| MEDLINE | ID: mdl-19935936
20.
Living with a rare disorder: a systematic review of the qualitative literature.
Mol Genet Genomic Med
; 5(6): 758-773, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29178638
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