Found: 28
Select item for more details and to access through your institution.
Supporting occupational therapists implementing a capacity-building model in schools.
- Published in:
- Canadian Journal of Occupational Therapy, 2017, v. 84, n. 4/5, p. 242, doi. 10.1177/0008417417709483
- By:
- Publication type:
- Article
Partnering for Change: An innovative school-based occupational therapy service delivery model for children with developmental coordination disorder.
- Published in:
- Canadian Journal of Occupational Therapy, 2012, v. 79, n. 1, p. 41, doi. 10.2182/cjot.2012.79.1.6
- By:
- Publication type:
- Article
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 1, p. 171, doi. 10.1093/hmg/ddt409
- By:
- Publication type:
- Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
- By:
- Publication type:
- Article
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3273, doi. 10.1093/brain/awad039
- By:
- Publication type:
- Article
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 4, p. 337, doi. 10.1002/pd.4543
- By:
- Publication type:
- Article
Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 951, doi. 10.1002/acn3.51335
- By:
- Publication type:
- Article
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00263
- By:
- Publication type:
- Article
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
- Published in:
- Genes, 2021, v. 12, n. 5, p. 670, doi. 10.3390/genes12050670
- By:
- Publication type:
- Article
Updated evidence-based developmental attainments for children: First 6 years.
- Published in:
- Paediatrics & Child Health (1205-7088), 2022, v. 27, n. 5, p. 285, doi. 10.1093/pch/pxac038
- By:
- Publication type:
- Article
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1325, doi. 10.1038/ejhg.2009.52
- By:
- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
- By:
- Publication type:
- Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
- By:
- Publication type:
- Article
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
- By:
- Publication type:
- Article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
- By:
- Publication type:
- Article
Missense variant contribution to USP9X-female syndrome.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
- By:
- Publication type:
- Article
TCF4 Deletions in Pitt-Hopkins Syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. E242, doi. 10.1002/humu.20859
- By:
- Publication type:
- Article
Making connections between school and home: Exploring therapists' perceptions of their relationships with families in partnering for change.
- Published in:
- British Journal of Occupational Therapy, 2020, v. 83, n. 2, p. 98, doi. 10.1177/0308022619876560
- By:
- Publication type:
- Article
Using an innovative model of service delivery to identify children who are struggling in school.
- Published in:
- British Journal of Occupational Therapy, 2017, v. 80, n. 3, p. 145, doi. 10.1177/0308022616679852
- By:
- Publication type:
- Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
- By:
- Publication type:
- Article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
- By:
- Publication type:
- Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
- By:
- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
- By:
- Publication type:
- Article
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00388
- By:
- Publication type:
- Article
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3831, doi. 10.1002/ajmg.a.62426
- By:
- Publication type:
- Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
- By:
- Publication type:
- Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
- By:
- Publication type:
- Article