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Filling in the gaps on FILS syndrome: A case report and literature review.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 5, p. 915, doi. 10.1111/pde.14274
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- Article
Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene.
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- Journal of Molecular Medicine, 2002, v. 80, n. 9, p. 595, doi. 10.1007/s00109-002-0363-1
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- Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
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- Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6
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- Article
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
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- Biology (2079-7737), 2018, v. 7, n. 2, p. 31, doi. 10.3390/biology7020031
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- Article
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
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- Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
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- Article
Inside Back Cover, Volume 41, Issue 1.
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- Human Mutation, 2020, v. 41, n. 1, p. ii, doi. 10.1002/humu.23967
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- Article
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
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- Human Mutation, 2020, v. 41, n. 1, p. 150, doi. 10.1002/humu.23902
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- Article
Cover Image, Volume 39, Issue 12.
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- Human Mutation, 2018, v. 39, n. 12, p. i, doi. 10.1002/humu.23687
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- Article
The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function.
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- Human Mutation, 2018, v. 39, n. 12, p. 2008, doi. 10.1002/humu.23647
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- Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
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- Article
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson–Golabi–Behmel Syndrome: Expansion of the Clinical Spectrum.
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- Pediatric & Developmental Pathology, 2019, v. 22, n. 1, p. 70, doi. 10.1177/1093526618770327
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- Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992
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- Article
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
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- Nature Genetics, 2004, v. 36, n. 4, p. 339, doi. 10.1038/ng1327
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- Article
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy.
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- 2023
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- Case Study
Transgenerational Inheritance of Familial Lipomyelomeningocele.
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- Journal of Child Neurology, 2017, v. 32, n. 14, p. 1118, doi. 10.1177/0883073817736701
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- Publication type:
- Article
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
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- 2016
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- Publication type:
- journal article
Efficient DNA cassette exchange in mouse embryonic stem cells by staggered positive‐negative selection.
- Published in:
- Genesis: The Journal of Genetics & Development, 2004, v. 39, n. 4, p. 256, doi. 10.1002/gene.20053
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- Article
Generation and functional confirmation of a conditional null PPARγ allele in mice.
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- Genesis: The Journal of Genetics & Development, 2002, v. 32, n. 2, p. 134, doi. 10.1002/gene.10042
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- Article
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
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- Genes, 2016, v. 7, n. 11, p. 96, doi. 10.3390/genes7110096
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- Article
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2988, doi. 10.1002/ajmg.a.62913
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- Article
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1421, doi. 10.1002/ajmg.a.61574
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- Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1276, doi. 10.1002/ajmg.a.61173
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- Publication type:
- Article
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1219, doi. 10.1002/ajmg.a.38144
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- Publication type:
- Article
A Novel Familial Autosomal Dominant Mutation in ARID1B Causing Neurodevelopmental Delays, Short Stature, and Dysmorphic Features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3313, doi. 10.1002/ajmg.a.37945
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- Article
The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2172, doi. 10.1002/ajmg.a.36488
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- Article
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 516, doi. 10.1002/ajmg.a.36299
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- Article
Novel mutation in TP 63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1432, doi. 10.1002/ajmg.a.35885
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- Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
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- 2017
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- Publication type:
- journal article
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
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- Cytogenetic & Genome Research, 2020, v. 160, n. 1, p. 2, doi. 10.1159/000504908
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- Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
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- Article
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 732, doi. 10.1093/hmg/ddac226
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- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Article
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
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- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1548, doi. 10.1093/hmg/ddy423
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- Article