logo
Genetic factors may underlie many cerebral palsy cases
Copy number variants linked to intellectual disability, less education
In this issue
Of mice and cats (both calico): Mary F Lyon, FRS (1925–2014)
Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery
Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature
Etiology and pathogenesis of robin sequence in a large Dutch cohort
The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome
Risk factors for Dandy–Walker malformation: A population-based assessment
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome
10 years later: Assessing the impact of public health efforts on the collection of family health history
Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population
Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy
Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
Phenotype of a child with Angelman syndrome born to a woman with Prader–Willi syndrome
Duplication of HEY2 in cardiac and neurologic development
Catatonia in an adolescent with velo-cardio-facial syndrome
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review
A de novo Mutation in KMT2A ( MLL ) in monozygotic twins with Wiedemann–Steiner Syndrome
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest
A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC)
Autistic and Rett-like features associated with 2q33.3–q34 interstitial deletion
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
A 3-year-old girl with Trisomy 18 and intussusception with Meckel's diverticulum