Found: 26
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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013258
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- Publication type:
- Article
A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The influence of physiological parameters on long term heart rate variability in healthy preterm infants.
- Published in:
- Journal of Perinatal Medicine, 1990, v. 18, n. 2, p. 131, doi. 10.1515/jpme.1990.18.2.131
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- Publication type:
- Article
Understanding Behavior in Phelan-McDermid Syndrome.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.836807
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- Publication type:
- Article
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
- Published in:
- 2022
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- Publication type:
- Case Study
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 450, doi. 10.1002/ajmg.c.31593
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- Publication type:
- Article
Heart rate variability.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1148, doi. 10.1002/ajmg.a.37592
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- Publication type:
- Article
Central 22q11.2 deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
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- Publication type:
- Article
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142350
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- Publication type:
- Article
Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.
- Published in:
- Journal of Developmental & Physical Disabilities, 2009, v. 21, n. 4, p. 301, doi. 10.1007/s10882-009-9143-y
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- Publication type:
- Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
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- Publication type:
- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Publication type:
- Article
Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 171, doi. 10.1038/ejhg.2009.158
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- Publication type:
- Article
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
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- Publication type:
- Article
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
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- Publication type:
- Article
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02657-x
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- Publication type:
- Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02658-w
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- Publication type:
- Article
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02670-0
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- Publication type:
- Article
Copy number variation in a hospital-based cohort of children with epilepsy.
- Published in:
- Epilepsia Open, 2017, v. 2, n. 2, p. 244, doi. 10.1002/epi4.12057
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- Publication type:
- Article
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
- Published in:
- BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-016-0167-8
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- Publication type:
- Article
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 396, doi. 10.1111/cge.14017
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- Publication type:
- Article
Support for the Diagnosis of CHARGE Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1343, doi. 10.1093/hmg/ddy045
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- Publication type:
- Article
Mutation update on the CHD7 gene involved in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
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- Publication type:
- Article