Works matching DE "DEVELOPMENTAL delay"
Results: 2250
Efficacy of early clinical interventions for children with global developmental delay.
- Published in:
- International Journal of Neuroscience, 2025, v. 135, n. 3, p. 280, doi. 10.1080/00207454.2023.2298715
- By:
- Publication type:
- Article
Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2025, v. 29, n. 1, p. 89, doi. 10.4103/ijem.ijem_278_24
- By:
- Publication type:
- Article
Unveiling developmental delays in early childhood: insights from a comparative study of the Bayley Scales (BSID-III) and the ASQ-3 in Iran.
- Published in:
- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05491-1
- By:
- Publication type:
- Article
Supporting Co-Regulation and Development of Self-Regulation Skills in Students With Intellectual Disabilities: A Scoping Review.
- Published in:
- Australasian Journal of Special & Inclusive Education, 2024, v. 48, n. 2, p. 1, doi. 10.1017/jsi.2024.3
- Publication type:
- Article
First line antiepileptics and their hidden risks - a unique case report on diffuse calvarial thickening and twisted tongue linked to the use of phenytoin and sodium valproate.
- Published in:
- Asia Pacific Journal of Medical Toxicology, 2024, v. 13, n. 4, p. 164
- By:
- Publication type:
- Article
Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review.
- Published in:
- Applied Sciences (2076-3417), 2025, v. 15, n. 4, p. 2195, doi. 10.3390/app15042195
- By:
- Publication type:
- Article
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 176, doi. 10.3390/genes16020176
- By:
- Publication type:
- Article
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 136, doi. 10.3390/genes16020136
- By:
- Publication type:
- Article
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.
- Published in:
- Clinical Neuropsychologist, 2025, v. 39, n. 2, p. 471, doi. 10.1080/13854046.2024.2372879
- By:
- Publication type:
- Article
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1550863
- By:
- Publication type:
- Article
Analysis of motor, cognitive and language performance of infants undergoing treatment for congenital hypothyroidism.
- Published in:
- Jornal de Pediatria, 2025, v. 101, n. 2, p. 172, doi. 10.1016/j.jped.2024.08.008
- By:
- Publication type:
- Article
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
- Published in:
- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1471, doi. 10.3390/ijms26041471
- By:
- Publication type:
- Article
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.
- Published in:
- Hormone Research in Paediatrics, 2025, v. 98, n. 1, p. 84, doi. 10.1159/000536019
- By:
- Publication type:
- Article
Beispielhaftes Beratungsangebot in Betreuungseinrichtungen für Kinder.
- Published in:
- Ergotherapie & Rehabilitation, 2012, v. 51, n. 6, p. 9
- Publication type:
- Article
Effects of Childhood Chronic Illness on Families.
- Published in:
- Social Work in Health Care, 1990, v. 14, n. 3, p. 37, doi. 10.1300/J010v14n03_03
- By:
- Publication type:
- Article
IV. GROWTH FAILURE IN INSTITUTIONALIZED CHILDREN.
- Published in:
- Monographs of the Society for Research in Child Development, 2011, v. 76, n. 4, p. 92, doi. 10.1111/j.1540-5834.2011.00629.x
- By:
- Publication type:
- Article
In utero azathioprine exposure and increased utilization of special educational services in children born to mothers with systemic lupus erythematosus.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Against Myths and Traditions that Emasculate Women: Language, Literature, Law and Female Empowerment.
- Published in:
- Liverpool Law Review, 2010, v. 31, n. 1, p. 29, doi. 10.1007/s10991-010-9071-z
- By:
- Publication type:
- Article
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
- Published in:
- Glycobiology, 2018, v. 28, n. 5, p. 276, doi. 10.1093/glycob/cwy014
- By:
- Publication type:
- Article
Bilişsel Gelişiminde Geriliği Olan Çocukların Annelerinde Bağlanma Biçimi ve Zihin Kuramı Becerileri.
- Published in:
- Turkish Journal of Child & Adolescent Mental Health / Çocuk ve Gençlik Ruh Sagligi Dergisi, 2023, v. 30, n. 3, p. 214, doi. 10.4274/tjcamh.galenos.2022.95967
- By:
- Publication type:
- Article
Effectiveness of a Multimodal Intervention using Movement, Mental Exercise and Dietary Approaches on Children with Specific Learning Difficulties.
- Published in:
- Asia Pacific Journal of Developmental Differences, 2021, v. 8, n. 1, p. 31, doi. 10.3850/S2345734121000022
- By:
- Publication type:
- Article
A rare case of the complex phenotype of hereditary spastic paraparesis due to a mutation in a novel gene variant.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
- Published in:
- Human Genetics, 2025, v. 144, n. 1, p. 55, doi. 10.1007/s00439-024-02718-6
- By:
- Publication type:
- Article
Automatized detection of uniparental disomies in a large cohort.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 955, doi. 10.1007/s00439-024-02687-w
- By:
- Publication type:
- Article
The omics era: a nexus of untapped potential for Mendelian chromatinopathies.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 475, doi. 10.1007/s00439-023-02560-2
- By:
- Publication type:
- Article
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 607, doi. 10.1007/s00439-023-02537-1
- By:
- Publication type:
- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
- By:
- Publication type:
- Article
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0
- By:
- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
- By:
- Publication type:
- Article
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1635, doi. 10.1007/s00439-021-02363-3
- By:
- Publication type:
- Article
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z
- By:
- Publication type:
- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
- By:
- Publication type:
- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
- By:
- Publication type:
- Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
- By:
- Publication type:
- Article
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 937, doi. 10.1007/s00439-019-02052-2
- By:
- Publication type:
- Article
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 1051, doi. 10.1007/s00439-018-1896-x
- By:
- Publication type:
- Article
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
- Published in:
- Human Genetics, 2018, v. 137, n. 11/12, p. 905, doi. 10.1007/s00439-018-1950-8
- By:
- Publication type:
- Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
- By:
- Publication type:
- Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
- Published in:
- Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
- By:
- Publication type:
- Article
A study of MRI and MR spectroscopy of brain in children with developmental delay.
- Published in:
- Indian Journal of Basic & Applied Medical Research, 2023, v. 12, n. 3, p. 23, doi. 10.36855/IJBAMR/2022/98215.5770
- By:
- Publication type:
- Article
Study of etiopathogenesis of first seizer in hospitalized infants in tertiary care Hospital.
- Published in:
- Indian Journal of Basic & Applied Medical Research, 2019, v. 8, n. 4, p. 309
- By:
- Publication type:
- Article
Automatic characterization of copy number polymorphism using high throughput sequencing.
- Published in:
- Turkish Journal of Electrical Engineering & Computer Sciences, 2020, v. 28, n. 1, p. 253, doi. 10.3906/elk-1903-135
- By:
- Publication type:
- Article
Development and validation of Egyptian developmental screening chart for children from birth up to 30 months.
- Published in:
- PeerJ, 2020, p. 1, doi. 10.7717/peerj.10301
- By:
- Publication type:
- Article
Generalized joint hypermobility among school-aged children in Majmaah region, Saudi Arabia.
- Published in:
- PeerJ, 2020, p. 1, doi. 10.7717/peerj.9682
- By:
- Publication type:
- Article
Effects on developmental outcomes after cesarean birth versus vaginal birth in Chinese children aged 1-59 months: a cross-sectional community-based survey.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.7902
- By:
- Publication type:
- Article
How glyphosate and its associated acidity affect early development in zebrafish (Danio rerio).
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.7094
- By:
- Publication type:
- Article
Silent victims of the COVID-19 pandemic may be infants who are at a risk of a neurodevelopmental delay: a cross-sectional study.
- Published in:
- Early Child Development & Care, 2024, v. 194, n. 15/16, p. 1485, doi. 10.1080/03004430.2024.2424188
- By:
- Publication type:
- Article
Positive and multifaceted perceptions of Israeli kindergarten teachers contribute to developmental gains of children with developmental delay.
- Published in:
- Early Child Development & Care, 2024, v. 194, n. 5/6, p. 769, doi. 10.1080/03004430.2024.2341732
- By:
- Publication type:
- Article
Strengthening the social and emotional skills of pre-schoolers with mental health and developmental challenges in inclusive early childhood education and care settings: a narrative review of educator-led interventions.
- Published in:
- Early Child Development & Care, 2021, v. 191, n. 15, p. 2311, doi. 10.1080/03004430.2019.1704283
- By:
- Publication type:
- Article
The prevalence and socioeconomic determinants of undetected developmental delay in preschool-aged children in the northwest of Iran: a population - based study.
- Published in:
- Early Child Development & Care, 2021, v. 191, n. 10, p. 1624, doi. 10.1080/03004430.2019.1666835
- By:
- Publication type:
- Article