Barriers to Diagnosis of A Rare Neurological Disorder in China—Lived Experiences of Rett Syndrome Families
The Diagnostic Odyssey to Rett Syndrome
Medical Care of Adolescents and Women With Rett Syndrome
A Re–Examination of the Use of Ethnicity in Prenatal Carrier Testing
Consensus Recommendations for Current Treatments and Accelerating Clinical Trials for Patients With Neurofibromatosis Type 2
the 8Th International Research Symposium on the Marfan Syndrome and Related Conditions
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the *** ZNF214 gene
Auriculo–Condylar Syndrome. Confronting A Diagnostic Challenge
Regional Variation in Prevalence of Oral Cleft Live Births in the Netherlands 1997–2007
Trends in Occurrence of Twin Births in Japan
the Evaluation of Cascade Testing for Familial Hypercholesterolemia
Renal Anomalies in Alagille Syndrome
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II
MBTPS2 Mutation Causes BRESEK/BRESHECK Syndrome
Duplication of the ZIC2 Gene is not Associated With Holoprosencephaly
Spina Bifida Subtypes and Sub–Phenotypes by Maternal Race/Ethnicity in the National Birth Defects Prevention Study
Trends in Cytogenetic Testing and Identification of Chromosomal Abnormalities Among Pregnancies and Children With Birth Defects, Metropolitan Atlanta, 1968–2005
Familial Poland Anomaly Revisited
Array–CGH and Clinical Characterization in a Patient with Subtelomeric 6p Deletion Without Ocular Dysgenesis
Detection of a Novel FH Whole Gene Deletion in the Propositus Leading to Subsequent Prenatal Diagnosis in a Sibship with Fumarase Deficiency
Chromosomal Loss of 3Q26.3–3Q26.32, Involving A Partial Neuroligin 1 Deletion, Identified by Genomic Microarray in A Child With Microcephaly, Seizure Disorder, and Severe Intellectual Disability
A Patient With a Mild Holoprosencephaly Spectrum Phenotype and Heterotaxy and a 1.3 Mb Deletion Encompassing GLI2
Phenotype of FOXP2 Haploinsufficiency in a Mother and Son
Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation
Split Hand–Split Foot–Ectodermal Dysplasia and Amelogenesis Imperfecta with a TP63 Mutation
In–Frame Multi–Exon Deletion of SMC1A in a Severely Affected Female with Cornelia de Lange Syndrome
Early Infantile Epileptic Encephalopathy Associated with the Disrupted Gene Encoding Slit–Robo Rho GTPase Activating Protein 2 ( SRGAP2 )
Recombinant Chromosome 7 in a Mosaic 45,X/47,XXX Patient
Vestibular Schwannomas Occur in Schwannomatosis and Should Not Be Considered An Exclusion Criterion for Clinical Diagnosis
Jacobsen Syndrome Due to An Unbalanced Translocation Between 11Q23 and 22Q11.2 Identified at Age 40 Years
SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic Treatments
A 16Q12 Microdeletion in A Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and A Heart Defect
Mild Nasal Malformations and Parietal Foramina Caused by Homozygous ALX4 Mutations
Congenital Disorder of Glycosylation IIa: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism
Atypical Achondroplasia Due to Somatic Mosaicism for the Common Thanatophoric Dysplasia Mutation R248C
Absence of COCH Gene Mutations in Patients With Superior Semicircular Canal Dehiscence
Maternally and Paternally Inherited Deletion of 7q31 Involving the FOXP2 Gene in Two Families
Long–Term Neuroimaging Follow–Up on An Asymptomatic Juvenile Metachromatic Leukodystrophy Patient After Hematopoietic Stem Cell Transplantation: Evidence of Myelin Recovery and Ongoing Brain Maturation
A Family of Pseudohypoparathyroidism Type Ia with an 850–kb Submicroscopic Deletion Encompassing the Whole GNAS Locus
CDKN1C Mutations and Genital Anomalies
Corrigendum to “Overview of German, Nazi, and Holocaust Medicine. Am J Med Genet 152A:687–707, 2010”
Erratam to Novel SOX2 Mutations and Genotype–Phenotype Correlation in Anophthalmia and Microphthalmia