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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
- Published in:
- Children, 2024, v. 11, n. 5, p. 578, doi. 10.3390/children11050578
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- Publication type:
- Article
Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges.
- Published in:
- 2024
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- Publication type:
- Editorial
Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 1, p. 116, doi. 10.4274/jcrpe.galenos.2023.2023-10-1
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- Publication type:
- Article
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
- Published in:
- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 1, p. 379, doi. 10.1007/s10803-022-05588-x
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- Publication type:
- Article
The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2023, v. 29, n. 4, p. 302, doi. 10.4274/tnd.2023.17837
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- Publication type:
- Article
Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1202, doi. 10.3390/children10071202
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- Publication type:
- Article
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
- Published in:
- BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03029-4
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- Publication type:
- Article
The Chromatin Remodeler ATRX: Role and Mechanism in Biology and Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 8, p. 2228, doi. 10.3390/cancers15082228
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- Publication type:
- Article
Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
A distinct cognitive profile in individuals with 3q29 deletion syndrome.
- Published in:
- Journal of Intellectual Disability Research, 2023, v. 67, n. 3, p. 216, doi. 10.1111/jir.12919
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- Publication type:
- Article
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 5033, doi. 10.1007/s10803-021-05365-2
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- Publication type:
- Article
Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.
- Published in:
- Turkish Archives of Pediatrics, 2022, v. 57, n. 5, p. 521, doi. 10.5152/TurkArchPediatr.2022.22070
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- Publication type:
- Article
Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.
- Published in:
- Osteoporosis International, 2022, v. 33, n. 5, p. 1177, doi. 10.1007/s00198-021-06228-3
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- Publication type:
- Article
Genetics Corner: Alpha Thalassemia X-Linked Intellectual Disability Syndrome in an Infant with Developmental Delay and DYS Recurrent Respiratory Failure Confirmed by Whole-Exome Sequencing.
- Published in:
- 2022
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- Publication type:
- Case Study
Correlation between dynamic susceptibility contrast perfusion MRI and genomic alterations in glioblastoma.
- Published in:
- Neuroradiology, 2021, v. 63, n. 11, p. 1801, doi. 10.1007/s00234-021-02674-2
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- Publication type:
- Article
Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
The Multiple Facets of ATRX Protein.
- Published in:
- Cancers, 2021, v. 13, n. 9, p. 2211, doi. 10.3390/cancers13092211
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- Publication type:
- Article
Prognostic factors in progressive high-grade glial tumors treated with systemic approach: A single center experience.
- Published in:
- Journal of Oncology Pharmacy Practice, 2021, v. 27, p. 329, doi. 10.1177/1078155220920684
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- Publication type:
- Article
Subgroup stratification of adult diffuse gliomas and outcomes: an adaptation of the updated WHO classification in a resource-constrained environment.
- Published in:
- Journal of Radiotherapy in Practice, 2021, v. 20, n. 1, p. 55, doi. 10.1017/S1460396919000918
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- Publication type:
- Article
A child with a novel DDX3X variant mimicking cerebral palsy: a case report.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00850-3
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- Publication type:
- Article
New Targeted Treatments for Fragile X Syndrome.
- Published in:
- Current Pediatric Reviews, 2019, v. 15, n. 4, p. 251, doi. 10.2174/1573396315666190625110748
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- Publication type:
- Article
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
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- Publication type:
- Article
A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 368, doi. 10.1111/cge.13485
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- Publication type:
- Article
Physiological effects of KDM5C on neural crest migration and eye formation during vertebrate development.
- Published in:
- Epigenetics & Chromatin, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13072-018-0241-x
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- Publication type:
- Article
Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00317
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- Publication type:
- Article
Motor, Somatosensory, Viscerosensory and Metabolic Impairments in a Heterozygous Female Rat Model of Rett Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 97, doi. 10.3390/ijms19010097
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- Publication type:
- Article
MicroRNA-509-3p inhibits cell proliferation and invasion via downregulation of X-linked inhibitor of apoptosis in glioma.
- Published in:
- Oncology Letters, 2018, v. 15, n. 1, p. 1307, doi. 10.3892/ol.2017.7390
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- Publication type:
- Article
Epigenetic Etiology of Intellectual Disability.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 45, p. 10773, doi. 10.1523/JNEUROSCI.1840-17.2017
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- Publication type:
- Article
Deficient Sleep in Mouse Models of Fragile X Syndrome.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00280
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- Publication type:
- Article
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 5, p. 625, doi. 10.1002/ccr3.834
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- Publication type:
- Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170843
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- Publication type:
- Article
Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164417
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- Publication type:
- Article
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 4, p. 293, doi. 10.1111/cge.12811
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- Publication type:
- Article
A Christianson syndrome-linked deletion mutation (Δ<sup>287</sup> ES<sup>288</sup>) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
- Published in:
- Molecular Neurodegeneration, 2016, v. 11, p. 1, doi. 10.1186/s13024-016-0129-9
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- Publication type:
- Article
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 276, doi. 10.1111/cge.12767
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- Publication type:
- Article
Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 6, p. 896, doi. 10.1111/cen.12947
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- Publication type:
- Article
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Rare Dravet-like epileptic encephalopathy with a novel mutation of PCDH19 gene.
- Published in:
- Paediatria Croatica, 2016, v. 6, n. 2, p. 74
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- Publication type:
- Article
X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0295-6
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- Publication type:
- Article
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
- Published in:
- Biomedical Reports, 2016, v. 4, n. 2, p. 215, doi. 10.3892/br.2015.559
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- Publication type:
- Article
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 2, p. 361, doi. 10.1007/s00415-015-7985-z
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- Publication type:
- Article
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
- Published in:
- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00083
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- Publication type:
- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Publication type:
- Article
Next-generation sequencing in X-linked intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
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- Publication type:
- Article
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 11, p. 22270, doi. 10.3390/ijms161126022
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- Publication type:
- Article
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 7, p. 604, doi. 10.1002/ccr3.301
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- Publication type:
- Article
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 602, doi. 10.1038/ejhg.2014.150
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- Publication type:
- Article
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 633, doi. 10.1038/ejhg.2014.109
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- Publication type:
- Article