subject area of
- A Male Phenotype With Aicardi Syndrome Journal Articles
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Journal Articles
- Analytical strategies to include the X‐chromosome in variance heterogeneity analyses: Evidence for trait‐specific polygenic variance structure Journal Articles
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature Journal Articles
- Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Journal Articles
- Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray Journal Articles
- Enhanced adaptive evolution of sperm-expressed genes on the mammalian X chromosome Journal Articles
- Estimation of duplication history under a stochastic model for tandem repeats Journal Articles
- Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster Journal Articles
- Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Journal Articles
- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal Articles
- Neurodevelopmental and associated changes in a patient with Xp22.31 duplication Journal Articles
- No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis Journal Articles
- Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification Journal Articles
- Paraspinal Synovial Sarcoma as an Unusual Postradiation Complication in Pediatric Abdominal Neuroblastoma Journal Articles
- Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal Articles
- Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq Journal Articles
- Renal Cell Carcinoma With Xp 11.2 Translocation as a Second Tumor in a Long-Term Survivor of Advanced Neuroblastoma Journal Articles
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Journal Articles
- Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray Journal Articles
- X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4 Journal Articles