Found: 8
Select item for more details and to access through your institution.
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
- By:
- Publication type:
- Article
Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series.
- Published in:
- Cognitive Behaviour Therapist, 2022, v. 15, p. 1, doi. 10.1017/S1754470X22000551
- By:
- Publication type:
- Article
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 908, doi. 10.1111/cge.13728
- By:
- Publication type:
- Article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 117, doi. 10.1111/jns.12368
- By:
- Publication type:
- Article
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 3, p. 519, doi. 10.1093/hmg/ddw409
- By:
- Publication type:
- Article
Mutations in ZBTB20 cause Primrose syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 815, doi. 10.1038/ng.3035
- By:
- Publication type:
- Article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 807, doi. 10.1038/sj.ejhg.5200890
- By:
- Publication type:
- Article