Works matching DE "DEVELOPMENTAL delay"
Results: 2270
Reply to the letter by Obara S.
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- 2025
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- Publication type:
- Letter
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03606-6
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- Publication type:
- Article
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 158, doi. 10.1111/pde.15748
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- Article
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi‐Bickel Syndrome.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 335, doi. 10.1111/cge.14648
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- Publication type:
- Article
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 328, doi. 10.1111/cge.14646
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- Publication type:
- Article
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 169, doi. 10.1111/cge.14626
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- Article
Sleep‐Related Breathing Disorders and Lower Urinary Tract Dysfunction in Children and Adolescents: A Scoping Review.
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- Neurourology & Urodynamics, 2025, v. 44, n. 2, p. 464, doi. 10.1002/nau.25652
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- Article
Phenotype Spectrum of TRPM3‐Associated Disorders.
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- Annals of Neurology, 2025, v. 97, n. 3, p. 561, doi. 10.1002/ana.27141
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- Publication type:
- Article
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03598-3
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- Publication type:
- Article
Congenital Arrhinia with Profound Hearing Loss and Complete Cleft Palate: A Challenging Triad.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 3, p. 1630, doi. 10.1007/s12070-025-05343-5
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- Publication type:
- Article
Effects of 6 months of permanence in an early intervention program on the developmental level of children 18-42 months of age in poverty: cohort study.
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- Boletín Médico del Hospital Infantil de México, 2025, v. 82, p. 86, doi. 10.24875/BMHIM.24000167
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- Publication type:
- Article
Novel mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology.
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- World Journal of Biological Psychiatry, 2025, v. 26, n. 3, p. 130, doi. 10.1080/15622975.2025.2453198
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- Publication type:
- Article
Autism spectrum disorder and 3p24.3p23 triplication: a case report.
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- 2025
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- Publication type:
- Case Study
Characteristics of the home environment in children with developmental delays: insights from a cross-sectional study in Türkiye.
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- Turkish Journal of Medical Sciences, 2025, v. 55, n. 1, p. 184, doi. 10.55730/1300-0144.5956
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- Publication type:
- Article
Characteristics of preterm infants in pediatric rehabilitation at a referral hospital in Peru.
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- Boletín Médico del Hospital Infantil de México, 2025, v. 82, n. 1, p. 44, doi. 10.24875/BMHIM.24000113
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- Publication type:
- Article
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.
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- 2025
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- Publication type:
- Case Study
Association between chest-to-head circumference ratio at birth and childhood neurodevelopment: the Japan Environment and Children's Study.
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- Journal of Developmental Origins of Health & Disease, 2024, v. 15, p. 1, doi. 10.1017/S2040174424000412
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- Article
Efficacy of early clinical interventions for children with global developmental delay.
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- International Journal of Neuroscience, 2025, v. 135, n. 3, p. 280, doi. 10.1080/00207454.2023.2298715
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- Publication type:
- Article
Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.
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- Indian Journal of Endocrinology & Metabolism, 2025, v. 29, n. 1, p. 89, doi. 10.4103/ijem.ijem_278_24
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- 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.
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- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05491-1
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- Publication type:
- Article
Supporting Co-Regulation and Development of Self-Regulation Skills in Students With Intellectual Disabilities: A Scoping Review.
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- 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.
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- Asia Pacific Journal of Medical Toxicology, 2024, v. 13, n. 4, p. 164
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- Publication type:
- Article
Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review.
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- Applied Sciences (2076-3417), 2025, v. 15, n. 4, p. 2195, doi. 10.3390/app15042195
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- Publication type:
- Article
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
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- Genes, 2025, v. 16, n. 2, p. 176, doi. 10.3390/genes16020176
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- Publication type:
- Article
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
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- Genes, 2025, v. 16, n. 2, p. 136, doi. 10.3390/genes16020136
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- 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.
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- Clinical Neuropsychologist, 2025, v. 39, n. 2, p. 471, doi. 10.1080/13854046.2024.2372879
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- Publication type:
- Article
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.
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- Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1550863
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- Article
Analysis of motor, cognitive and language performance of infants undergoing treatment for congenital hypothyroidism.
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- Jornal de Pediatria, 2025, v. 101, n. 2, p. 172, doi. 10.1016/j.jped.2024.08.008
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- Publication type:
- Article
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1471, doi. 10.3390/ijms26041471
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- Article
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.
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- Hormone Research in Paediatrics, 2025, v. 98, n. 1, p. 84, doi. 10.1159/000536019
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- Article
Beispielhaftes Beratungsangebot in Betreuungseinrichtungen für Kinder.
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- Ergotherapie & Rehabilitation, 2012, v. 51, n. 6, p. 9
- Publication type:
- Article
Effects of Childhood Chronic Illness on Families.
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- Social Work in Health Care, 1990, v. 14, n. 3, p. 37, doi. 10.1300/J010v14n03_03
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- Publication type:
- Article
IV. GROWTH FAILURE IN INSTITUTIONALIZED CHILDREN.
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- 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
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- Article
In utero azathioprine exposure and increased utilization of special educational services in children born to mothers with systemic lupus erythematosus.
- Published in:
- 2013
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- Publication type:
- Opinion
Against Myths and Traditions that Emasculate Women: Language, Literature, Law and Female Empowerment.
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- Liverpool Law Review, 2010, v. 31, n. 1, p. 29, doi. 10.1007/s10991-010-9071-z
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- Publication type:
- Article
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
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- Glycobiology, 2018, v. 28, n. 5, p. 276, doi. 10.1093/glycob/cwy014
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- Publication type:
- Article
Bilişsel Gelişiminde Geriliği Olan Çocukların Annelerinde Bağlanma Biçimi ve Zihin Kuramı Becerileri.
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- 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
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- Publication type:
- Article
Effectiveness of a Multimodal Intervention using Movement, Mental Exercise and Dietary Approaches on Children with Specific Learning Difficulties.
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- Asia Pacific Journal of Developmental Differences, 2021, v. 8, n. 1, p. 31, doi. 10.3850/S2345734121000022
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- 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
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- Publication type:
- Case Study
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
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- Human Genetics, 2025, v. 144, n. 1, p. 55, doi. 10.1007/s00439-024-02718-6
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- Publication type:
- Article
Automatized detection of uniparental disomies in a large cohort.
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- Human Genetics, 2024, v. 143, n. 8, p. 955, doi. 10.1007/s00439-024-02687-w
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- Publication type:
- Article
The omics era: a nexus of untapped potential for Mendelian chromatinopathies.
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- Human Genetics, 2024, v. 143, n. 4, p. 475, doi. 10.1007/s00439-023-02560-2
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- Article
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
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- Human Genetics, 2024, v. 143, n. 4, p. 607, doi. 10.1007/s00439-023-02537-1
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- Publication type:
- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
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- Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
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- Publication type:
- Article
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
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- Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
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- Human Genetics, 2021, v. 140, n. 12, p. 1635, doi. 10.1007/s00439-021-02363-3
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- Article
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
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- Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z
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- Publication type:
- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
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- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
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- Publication type:
- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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- Publication type:
- Article