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Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3162, doi. 10.1002/ppul.25056
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- Publication type:
- Article
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
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- Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00256-2
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- Publication type:
- Article
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10782
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- Publication type:
- Article
Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2262
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- Publication type:
- Article
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01113-y
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- Publication type:
- Article
Patterns of co‐occurring birth defects in children with anotia and microtia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 805, doi. 10.1002/ajmg.a.63081
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- Publication type:
- Article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
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- Publication type:
- Article
Parental perceptions of genetic testing for children with autism spectrum disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 178, doi. 10.1002/ajmg.a.62517
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- Publication type:
- Article
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1787, doi. 10.1002/ajmg.a.62175
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- Publication type:
- Article
Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2581, doi. 10.1002/ajmg.a.61830
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- Publication type:
- Article
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1426, doi. 10.1002/ajmg.a.61580
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- Publication type:
- Article
Schaaf‐Yang syndrome overview: Report of 78 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650
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- Publication type:
- Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
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- Publication type:
- Article
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2485, doi. 10.1002/ajmg.a.38328
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- Publication type:
- Article
Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192
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- Publication type:
- Article
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144
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- Publication type:
- Article
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Germline testing for homologous recombination repair genes—opportunities and challenges.
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- Genes, Chromosomes & Cancer, 2021, v. 60, n. 5, p. 332, doi. 10.1002/gcc.22900
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- Publication type:
- Article
Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.
- Published in:
- Scientific Reports, 2017, p. 39941, doi. 10.1038/srep39941
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- Publication type:
- Article
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 4, p. 417, doi. 10.1177/10556656211010060
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- Publication type:
- Article
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009106
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- Publication type:
- Article
Multiple Arterial Dissections and Connective Tissue Abnormalities.
- Published in:
- 2022
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- Publication type:
- Case Study
Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02054-1
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- Publication type:
- Article
Analysis of the hypothalamic oxytocin system and oxytocin receptor‐expressing astrocytes in a mouse model of Prader–Willi syndrome.
- Published in:
- Journal of Neuroendocrinology, 2022, v. 34, n. 12, p. 1, doi. 10.1111/jne.13217
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- Publication type:
- Article
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 7, p. 2491, doi. 10.1007/s10803-018-3775-7
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- Publication type:
- Article
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1071, doi. 10.1038/ejhg.2013.302
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- Publication type:
- Article
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
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- Publication type:
- Article
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1240, doi. 10.1038/ejhg.2012.95
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- Publication type:
- Article
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 152, doi. 10.1038/ejhg.2010.168
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- Publication type:
- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Publication type:
- Article
Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.622329
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- Publication type:
- Article
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs.
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- Medizinische Genetik, 2022, v. 34, n. 1, p. 13, doi. 10.1515/medgen-2022-2113
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- Publication type:
- Article
Hans Gunther and his disease.
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- Photodermatology, Photoimmunology & Photomedicine, 2007, v. 23, n. 6, p. 261, doi. 10.1111/j.1600-0781.2007.00323.x
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- Publication type:
- Article
mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52287-2
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- Publication type:
- Article
Co‐occurring defect analysis: A platform for analyzing birth defect co‐occurrence in registries.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 18, p. 1356, doi. 10.1002/bdr2.1549
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- Publication type:
- Article
Quantitative real-time imaging of glutathione.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 16087, doi. 10.1038/ncomms16087
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- Publication type:
- Article
The adult phenotype of Schaaf-Yang syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 6, p. 771, doi. 10.1002/ana.21715
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- Publication type:
- Article
Novel interaction partners of the TPR/MET tyrosine kinase.
- Published in:
- FASEB Journal, 2005, v. 19, n. 2, p. 267, doi. 10.1096/fj.04-1558fje
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- Publication type:
- Article
Genomic newborn screening: Proposal of a two‐stage approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 518, doi. 10.1002/jimd.12381
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- Publication type:
- Article
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 705, doi. 10.1093/hmg/ddz233
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- Publication type:
- Article
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 459, doi. 10.1093/hmg/ddz305
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- Publication type:
- Article
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 17, p. 3366, doi. 10.1093/hmg/ddr243
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- Publication type:
- Article
Genetic variants in patients with multiple arterial aneurysms.
- Published in:
- Langenbeck's Archives of Surgery, 2024, v. 409, n. 1, p. 1, doi. 10.1007/s00423-024-03488-5
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- Publication type:
- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Publication type:
- Article
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 62, doi. 10.3390/ijns10030062
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- Publication type:
- Article
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19830696
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- Publication type:
- Article
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19830696
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- Publication type:
- Article
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 8, p. 1260, doi. 10.3390/cells11081260
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- Publication type:
- Article